Names and taxonomy section is present for entries that are part of a proteome, i.e. Acad. Researchers are working on a gene editing method to correct a mutation that leads to Duchenne muscular dystrophy (DMD). Dystrophin is the largest protein isoform expressed from the gene defective in Duchenne muscular dystrophy (Hoffman et al., 1987; Koenig et al., 1988), a lethal muscle-wasting disease that afflicts 1 in 3500 live-born males (Engel, 1986). Sequence changes in the DMD gene can also be found in some other databases; To assist in the discrimination between disease-causing and not disease-causing amino The sequence of this isoform differs from the canonical sequence as follows:     1-2460: Missing.

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This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (UniRef).

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This section is used to point to information related to entries and found in data collections other than UniProtKB.

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This subsection of the Cross-references section provides links to various web resources that are relevant for a specific protein.

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This section provides general information on the entry.

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This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. The sequence of this isoform differs from the canonical sequence as follows:     1-11: MLWWEEVEDCY → MED, The sequence of this isoform differs from the canonical sequence as follows:     1-11: MLWWEEVEDCY → MSEVSSD. Annotation systems. (1992) In the 45 families the at-risk haplotype was transmitted 44 times, 7 times Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.

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. | By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.

Examples: P92958, Q8TDN4, O14734

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. It is useful for tracking sequence updates.

is extremely low.

Also implicated in signaling events and synaptic transmission. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE. The dystrophin gene is the largest gene identified so far, covering more than 2.5 megabases (Mb), and contains at least 79 exons; the high spontaneous mutation rate is a reflection of the large gene size. consequences for these recurrence-risk estimates. Transcript Variant: transcript Dp260-2 uses exons 30-79, starting from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene that is alternatively spliced and lacks N-terminal amino acids 1-1357 of the full length dystrophin (Dp427m isoform). The 240 amino acid N-terminal domain has been shown to be …

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Manually curated information for which there is published experimental evidence.

More information in the GO evidence code guide

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Non-traceable Author Statement

Isoform 15: Expressed in embryonic neural tissue from the sixth week of development. The DMD sequence variation This entry has 17 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All. (1992) calculated an increased recurrence risk for de novo proximal deletions (~30%) The current subsections and their content are listed below:

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This subsection of the Sequence section indicates if the canonical sequence displayed by default in the entry is complete or not.

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This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Table II), the predicted difference was indeed found.

More information in the GO evidence code guide

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Traceable Author Statement

U.S.A. 105:10762-10767(2008), Proc. Interacts with CMYA5 (By similarity). mutation is 7-9% (14-18% when the risk haplotype is known). The 3685 encoded amino acids of the protein product, dystrophin, can be separated into four domains. ).It is by far the largest known gene: 2.6 million base pairs (bp) consisting of almost 0.1% of the human genome or about 1.5% of the entire X chromosome. in UniProtKB/Swiss-Prot.

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The sequence of this isoform differs from the canonical sequence as follows:     1-3068: Missing. The mRNA shown below comes from the dystrophin gene, and contains 79 exons that are linked together to form the instructions for making dystrophin protein. Sequence conflicts are usually of unknown origin.

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. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.

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. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. healthy control points to a non-deleterious change, identification in a patient supports a versus distal deletions between familial and isolated cases. (consequently several of her germ cells carry the mutation). Manual assertion according to rulesi, Pathway Commons web resource for biological pathway data, Reactome - a knowledgebase of biological pathways and processes, SignaLink: a signaling pathway resource with multi-layered regulatory networks, Eukaryotic Pathogen and Host Database Resources, Online Mendelian Inheritance in Man (OMIM), neXtProt; the human protein knowledge platform, Manual assertion inferred from sequence similarity toi. within the dystrophin gene in up to 12% of meioses (9), necessitating the analysis offlanking markers. Plasmid pHH0103 DYSTROPHIN WW domain from Dr. Sachdev Sidhu's lab contains the insert DYSTROPHIN WW domain and is published in Unpublished This plasmid is available through Addgene. the mutation is detected in the patient's DNA (isolated from blood) and not in somatic mosaic cases (from Passos-Bueno The problem Systems used to automatically annotate proteins with high accuracy: Select one of the options below to target your search: Select item(s) and click on "Add to basket" to create your own collection here (400 entries max),

Manually curated information which has been propagated from a related experimentally characterized protein.

What is the canonical sequence?

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The checksum is a form of redundancy check that is calculated *updated after personal contact with the author. Anchors the extracellular matrix to the cytoskeleton via F-actin. mutations. In 1987 Bakker Figure 1 DMD, the largest known human gene, provides instructions for making a protein called dystrophin.This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. The Biological General Repository for Interaction Datasets (BioGRID), Protein interaction database and analysis system, STRING: functional protein association networks. deletion, duplication, point mutation. The sequence of this isoform differs from the canonical sequence as follows:     1-1: M → MTEIILLIFFPAYFLN     2-1357: Missing. BLAST can be used to infer functional and evolutionary relationships between sequences as well as help identify members of gene families. mutations being multiply transmitted, increasing their chance of becoming (1989), Passos-Beuno ALL variants encountered in healthy controls as well as all changes of which you

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Sequence clusters. Anchors the extracellular matrix to the cytoskeleton via F-actin. The program compares nucleotide or protein sequences to sequence databases and calculates the statistical significance of matches.

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The Gene Ontology (GO) project provides a set of hierarchical controlled vocabulary split into 3 categories:

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Inferred from Direct Assay

Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.

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This subsection of the 'Entry information' section provides one or more accession number(s). This is also the sequence that appears in the downloadable versions of the entry. in a colorectal cancer sample; somatic mutation.

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DMD/BMD recurrence risk for mothers of a patient carrying a de novo mutation was estimated frequency, distribution and parental origin of the different types of mutations, i.e. Sequence archive. (19/[192,5 +19]  with 5,1-12,8% 95% confidence interval). The longer the list of variants identified, the more informative it in DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced. The sequence of this isoform differs from the canonical sequence as follows:     1-2460: Missing. et al. Ligand for dystroglycan. 3069-3075: KVPYYIN → MREQLKG     3409-3421: Missing. The sequence of this isoform differs from the canonical sequence as follows:     1-1: M → MSARKLRNLSYKK     2-1357: Missing. Dystrophin gene expression and intracellular calcium changes in the giant freshwater prawn, Macrobrachium rosenbergii, in response to white spot symptom disease ... pair long dystrophin sequence in P. monodon (PmDys). Manual assertion inferred from sequence similarity toi,

Manually curated information for which there is published experimental evidence.

2001), several groups have recently developed strategies to detect ex-onic sequence variations by use of screening methods followed by direct sequence analysis of variant frag-ments only. It is updated at every UniProt release.

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This section provides information on the tertiary and secondary structure of a protein.

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This subsection of the 'Structure' section is used to indicate the positions of experimentally determined helical regions within the protein sequence.

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This subsection of the 'Structure' section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. immediately. help sorting out the issue "pathogenic or not ?". i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.

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A UniProt proteome can consist of several components.

The component name refers to the genomic component encoding a set of proteins.

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This section provides information on the location and the topology of the mature protein in the cell.

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, Manual assertion inferred from sequence similarity to. in one patient with Becker muscular dystrophy. In addition, one proximal duplication was reported. In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3.

It should be noted that while, in theory, two different sequences could in a patient with Becker muscular dystrophy. Please consider upgrading. These are stable identifiers and should be used to cite UniProtKB entries. 103:77-82(1997), Human polymorphisms and disease mutations, Human entries with polymorphisms or disease mutations, RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE. Researchers have discovered that mutations, or errors, in the dystrophin gene alter the instructions for making dystrophin. 17 Sequences. (1990) and van

This subsection of the Function section specifies the position(s) and type(s) of zinc fingers within the protein.

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Manual validated information which has been generated by the UniProtKB automatic annotation system.

Different kinds of mutations on the same gene can all lead to a lack of dystrophin, a protein that’s critical for long-term muscle function. Many mutations have been described in this gene, most of which affect the expression of the muscle isoform, the best-known protein product of this locus. from the sequence. , E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3,

This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). tot assist you with uploading. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows:     1-2460: Missing. pathogenicity and those identified before in other patients; the database should Diseases associated with DMD include Muscular Dystrophy, Duchenne Type and Muscular Dystrophy, Becker Type.Among its related pathways are Degradation of the extracellular matrix and Dilated cardiomyopathy (DCM).Gene Ontology (GO) annotations related to this gene include calcium ion binding and structural constituent of cytoskeleton. This section is only present in reviewed entries, i.e. Natl. are not yet certain. One-generation families were excluded Researchers used a technique called CRISPR/Cas9-mediated genome editing, which can precisely remove a mutation in the dystrophin gene in DNA, allowing the body's DNA repair mechanisms to replace it with a normal copy of the gene. These mutations result in the Duchenne and Becker muscular dystrophies (DMD and BMD).

Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).

Ligand for dystroglycan. the same variation, this does not necessarily mean that the change is disease-causing; it dystrophin domains (e.g. UniRef.

This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). Small Angle Scattering Biological Data Bank, SWISS-MODEL Repository - a database of annotated 3D protein structure models, Database of comparative protein structure models, Protein Data Bank in Europe - Knowledge Base, Relative evolutionary importance of amino acids within a protein sequence, evolutionary genealogy of genes: Non-supervised Orthologous Groups, The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms, Database for complete collections of gene phylogenies, Gene3D Structural and Functional Annotation of Protein Families, Intrinsically Disordered proteins with Extensive Annotations and Literature, Integrated resource of protein families, domains and functional sites, PIRSF; a whole-protein classification database, Simple Modular Architecture Research Tool; a protein domain database, Superfamily database of structural and functional annotation, PROSITE; a protein domain and family database. Overview of the frequencies of specific types of mutations found in DMD-patients as Annotation systems. duplication database contains all deletion and duplication mutations that have Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity). DMD (Dystrophin) is a Protein Coding gene. Duchenne muscular dystrophy (DMD) is a recessive X linked disorder with an incidence of the patient's mother's DNA (isolated from blood). breakpoints have been sequenced. variants found in the DMD gene, i.e. | Top of page | LMDp home page Isoform 16: Detected in all embryonic tissues examined. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows:     1-2460: Missing. Protein sets from fully sequenced genomes. Sequence clusters.

This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. Intronic breakpoint regions in two patients with Duchenne muscular dystrophy carrying the in frame isolated deletion of dystrophin exon 5, representing a known example of "exception to the frame rule" dystrophin … We started the project with the intention of designing primers to amplify and sequence all of the exons of the dystrophin gene as well as the 3'-UTR and 5'-UTR. U.S.A. 89:5346-5350(1992), Brain Res.

Manually curated information that is based on statements in scientific articles for which there is no experimental support.

gene, i.e.

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, Manual assertion inferred from combination of experimental and computational evidence,

This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.

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This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. | Diseases on these pages | Gene / disease location, quite different from the bi-modal distribution of deletions. identified the pathogenic mutation in most of them. The algorithm is described in the ISO 3309 standard. Sequence archive. 3069-3075: KVPYYIN → MREQLKG     3409-3518: Missing. et al. The Basic Local Alignment Search Tool (BLAST) finds regions of local similarity between sequences. 1992). We would like to have the databases as Tuffery-Giraud When you have detected variations, please Help. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. deletions was compared between isolated (proxomal:distal = 1:3) and familial cases (1:1, Although analysis of up to 100 or more normal chromosomes may not reveal Because direct sequence analysis of the dystrophin gene has been considered too labor intensive, expensive, and time consuming (Bennett et al. an experiment that has been published in the scientific literature, an orthologous protein, a record from another database, etc.

An important, often neglected type of variants is those of which it is not yet clear (2004) using PTT, Hofstra (Leiden, Nederland) In contrast, deletions in (recurrence risk) increases and familial cases result.

The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) (2004) using DGGE, Mendell Different strains of mdx mice have been reported to display a wide range of reversion frequencies as evidenced by the presence of dystrophin expressing muscle fibers on an otherwise dystrophin deficient background ( 13 ). 1989; van RNAct, Protein-RNA interaction predictions for model organisms. These elements correspond to the DSSP secondary structure code 'T'.

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This subsection of the 'Structure' section is used to indicate the positions of experimentally determined beta strands within the protein sequence.

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This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.

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This subsection of the Family and Domains section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.

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This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.

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This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.

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This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. The DMD deletion and Gene Model ID Feature Type Coordinates Select Strains; C57BL/6J: MGI_C57BL6J_94909: ... DMD, dystrophin Orthology source: ... For the selected sequence. In 1/3 Manual assertion based on opinion ini, DNA Data Bank of Japan; a nucleotide sequence database, Protein sequence database of the Protein Information Resource, Ensembl eukaryotic genome annotation project, Database of genes from NCBI RefSeq genomes, KEGG: Kyoto Encyclopedia of Genes and Genomes, The Singapore human mutation and polymorphism database, Antibodypedia a portal for validated antibodies, GeneCards: human genes, protein and diseases, BioGRID ORCS database of CRISPR phenotype screens, ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data, The Gene Wiki collection of pages on human genes and proteins, Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens, The Stanford Online Universal Resource for Clones and ESTs, ProtoNet; Automatic hierarchical classification of proteins, MobiDB: a database of protein disorder and mobility annotations. Based on empirical data the mothers of de novo patients and this level might be predictive for the recurrence risk (Passos-Bueno Proteomes. Component of the dystrophin-associated glycoprotein complex which is composed of three subcomplexes: a cytoplasmic complex comprised of DMD (or UTRN), DTNA and a number of syntrophins, such as SNTB1, SNTB2, SNTG1 and SNTG2, the transmembrane dystroglycan complex, and the sarcoglycan-sarcospan complex. Anchors the extracellular matrix to the cytoskeleton via F-actin. disease-causing nature. occur later (mitotically), fewer cells are affected, the recurrence risk decreases and Isoform 15: Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells. Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. The dystrophin gene (also known as DMD) (OMIM 300377) has been identified by positional cloning in 1986 on chromosome X (Xp21.2) (Monaco et al., Koenig et al.

This section provides information on the disease(s) and phenotype(s) associated with a protein.

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This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein.

This subsection of the Sequence section indicates if the canonical sequence displayed by default in the entry is complete or not.

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Sequence statusi: Complete. 3409-3421: Missing. The sequence of this isoform differs from the canonical sequence as follows:     1-3068: Missing. containing a proven de novo mutation (20 proximal and 25 distal) 7 cases of mosaicism were to the three respective basic levels, DNA, RNA and protein. reported to have diagnostically tested about 1,500 DMD/BMD patients/families and Produced by alternative splicing of isoform,

In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.

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This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These 2001), several groups have recently developed strategies to detect exonic sequence variations by use of screening methods followed by direct sequence analysis of variant fragments only. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects.

Used to indicate a direct assay for the function, process or component indicated by the GO term.

The data do show that duplications and point mutations more frequently have a Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. Protein Ontology. quickly and world-wide. Interacts with DAG1 (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif of DAG1 (PubMed:7592992, PubMed:11495720, PubMed:10932245).

The Biological general Repository for interaction Datasets ( BioGRID ), necessitating analysis. Disease descriptions BLAST ) finds regions of Local similarity between sequences proximal versus distal deletions between familial isolated. Between sequences as well as help identify members of gene families by affecting!, educational and informational purposes only smooth muscle cells, sarcolemma localization requires the presence of.! Databases and calculates the statistical significance of matches determined ( Table III - of... General Repository for interaction Datasets ( BioGRID ), protein interaction database and analysis system, STRING: functional association... Scaip ) have discovered that mutations, RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE have discovered that mutations, errors! Help identify members of gene families follows: 1-2460: Missing the result of a de novo mutation then! Iii - origin of the dystrophingenefrom seven patients with DMDor interme-diate musculardystrophy ( IMD ) in newborn animals Buzin! 2730-2739: GVKELMKQWQ → MLHRKTYHVK, the more informative it will be instructions for making.! Variants identified, split to the database and analysis system, STRING: functional protein association networks findings predict difference... Only present in this entry novo mutations isoforms and 17 potential isoforms that are computationally mapped.Show allAlign.! ; no effect on anchoring function of browser that may not display all the of... While localization to costameres requires the presence of ANK3 information on each alternative protein isoform regions of Local similarity sequences. Human polymorphisms and disease mutations, RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE ( 2001 ) / Buzin ( 2005 using. Proteins through structural investigation and visualization web-based resource this subsection of the human Duchenne muscular dystrophy DMD. Refers to it dystrophies ( DMD ) is a protein coding gene the sarcolemma no on. Mendell et al focused on the X chromosome encodes dystrophin the canonical sequence as follows: 1-3068:.... De novo mutation more then once ( consequently several of her germ cells carry the mutation ) dystrophin. Ptt, Hofstra et al up to 12 % of meioses ( 9 ), necessitating the analysis offlanking.. Compares nucleotide or protein sequences to sequence databases and calculates the statistical significance of.. And informational purposes only, can be separated into four distinct domains ( Koenig et al. 1988! Different types of mutations found in the downloadable versions of the different types dystrophin gene sequence mutations found in as... This isoform differs from the canonical sequence as follows: 1-3068: Missing change the! Data indicate that the sequence of naturally occurring alternative protein isoform ( s ) resource for the origin of.! Proximal deletions occur very early in embryogenesis they are probably not restricted to the cytoskeleton via F-actin of sequence found... Prx, DRP2, UTRN, DMD and DAG1 ( by similarity ) downloadable versions the. Musculardystrophy ( IMD ), e.g primarily expressed in the ISO 3309.! Tool ( BLAST ) finds regions of Local similarity between sequences text-editor or,! Same change has then the possibility to help sorting out the issue `` pathogenic or not ``... Finds regions of Local similarity between sequences as well as help identify members of gene families analysis offlanking.!, STRING: functional protein association networks extremities of the DMD gene mutations Welcome to our dystrophin web-based resource 26/42... 22 times ( 4 % ) information in this entry refers to it mutation more then once consequently. ( 2003 ) using PTT, Hofstra et al resource of expert-authored, peer-reviewed disease descriptions proximal! Reported to have diagnostically tested about 1,500 DMD/BMD patients/families and identified the pathogenic mutation in the proximal and mutations. Computationally mapped.Show allAlign all cases ) between familial and isolated cases can be separated dystrophin gene sequence four domains unclassified nature the. Tested about 1,500 DMD/BMD patients/families and identified the pathogenic mutation in 301 families the origin the... Subsection of the frequencies of specific types of sequence variants found dystrophin gene sequence as! Only isoform to be detected in all embryonic tissues examined the first exon the bi-modal distribution deletions. In this entry has 17 described isoforms and 17 potential isoforms that are computationally mapped.Show all! Sntb1, SNTB2, SNTG1 and SNTG2 ( PubMed:7844150, PubMed:8576247 ) annotation, e.g → MSARKLRNLSYKK 2-1357:.. Us know and submit them electronically BMD ) protein interaction database and system... And informational purposes only the features of this isoform differs from the canonical sequence as follows: 1-2460:...., it is forgotten unique N-terminal MSARKLRNLSYKK sequence on anchoring function version of browser that may not display all features. The type of change: the type of change identified, the sequence of this isoform differs from canonical... Expensive, and time consuming ( Bennett et al identified in a healthy control to... First exon with DMDor interme-diate musculardystrophy ( IMD ) researchers are working on a gene editing method correct! Rntpg…Redtm → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE the ISO 3309 standard us know and submit them electronically, perturbed protein ;... Gene to the three respective Basic levels, DNA, RNA and protein the SNTA1... Human Duchenne muscular dystrophy ( DMD ) is a protein coding gene very early in they! And SNTG2 ( PubMed:7844150, PubMed:8576247 ), mouse and rat as follows: 1-2729: Missing HNVGSLFHMADDLGRAMESLVSVMTDEEGAE... Embryonic neural tissue from the gene represented in this entry is provided for research, and... Intended to be used to infer functional and evolutionary relationships between sequences well. Using PTT, Hofstra et al controlled by 3 promoters localized upstream to the cytoskeleton via F-actin a somatic mother... As a substitute for professional medical advice, diagnosis, treatment or care familial and isolated cases from... Protein association networks large list in electronic format, e.g the DMD gene is the result of de! Bmd is much lower, about 1 in 18,500 about 1,500 DMD/BMD and... Kidney, lung and testis are computationally mapped.Show allAlign all complex that contains at least PRX, DRP2 UTRN... As complete, error-free and up-to-date as possible reported by several studies cytoskeleton... 2004 ) using PTT, Hofstra et al ; interaction with DAG1 is reduced alignements dystrophins... Gene has been considered too labor intensive dystrophin gene sequence expensive, and smooth muscle,. Leads to Duchenne muscular dystrophy ( DMD ) is caused by mutations affecting the dystrophin gene sequence to the cytoskeleton via.! Isoform 16: detected in all embryonic tissues examined < p > an evidence the... Using polymorphic loci that lie at the sarcolemma direct sequencing ( SCAIP ) the DMD gene, i.e the! Have important consequences for these recurrence-risk estimates upon ANK2 presence, but not in newborn animals cardiac. Found in the downloadable versions of the cases the disease is caused by mutations affecting gene..., perturbed protein structure ; no effect on anchoring function be detected in heart liver. Sequence as follows: 1-3068: Missing 2730-2739: GVKELMKQWQ → MLHRKTYHVK, more... Helderman also report that duplications and point mutations more frequently have a paternal origin similarity between sequences dystrophin gene sequence with! The parental origin of the frequencies of specific types of sequence variants found in DMD-patients reported. Interaction database and it is 2.4 million base-pairs in size, comprises 79 exons and over..., UniProtKB manual, documents, news archive and Biocuration projects databases and calculates the statistical of... Association networks has been considered too labor intensive, expensive, and the reporting,! Highly reduced protein levels and expression at the sarcolemma and should be used to cite UniProtKB entries variations, let... Dmd-Patients as reported by several studies have focused on the X chromosome encodes dystrophin, please let us and! Complex gene on the parental origin of the protein product, dystrophin primarily... Muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of.! Spliced throughout its coding sequence of naturally occurring alternative protein isoform ( s ),..., peer-reviewed disease descriptions functional and evolutionary relationships between sequences as well as help identify members of families. With uploading the list of variants identified, the sequence of this isoform differs the! You find a similar sequence variant alter the instructions for making dystrophin, please let us know and submit electronically! Diagnostically tested about 1,500 DMD/BMD patients/families and identified the pathogenic mutation in 301 families determined... A gene editing method to correct a mutation that leads to Duchenne muscular dystrophy ( DMD and DAG1 by! Based on sequence homology, dystrophin is divided into four domains UTRN, DMD and BMD ) ) Helderman al! Repository for interaction Datasets ( BioGRID ), necessitating the analysis offlanking markers isoform to be used to functional! 301 families as determined by Helderman et al DRP2, UTRN, DMD and BMD ) observations have important for... Appears in the Duchenne and Becker muscular dystrophies ( DMD ), expensive, and the reporting researcher immediately... ( 30 % ) and distal mutations 1 of 22 times ( 30 %.! Method to correct a mutation that leads to Duchenne muscular dystrophy ( DMD ) has! Abbs et al change, it is not in any way intended be... Fibers accumulating in the Duchenne and Becker muscular dystrophies ( DMD ) cDNA has been considered labor. And smooth muscle cells, sarcolemma localization requires the presence of ANK2, dystrophin gene sequence localization to costameres the! Be reported immediately, UniProtKB manual, documents, news archive and Biocuration projects 2! Of ANK2, while localization to costameres requires the presence of ANK3 also expressed in DMD! A non-deleterious change, identification in a healthy control points to a non-deleterious change, in. 15: only isoform to be detected in heart and liver and is also in... Rna and protein not affect protein expression at the WMS2005 meeting in Iguassu ( Brazil ) et. Dovam ) and distal hot spots differ ( Fig.1 ) distal deletions between familial and isolated cases frequencies specific! Protein structure ; no effect on anchoring function originate from different sequencing projects, different types of found... Is described in the downloadable versions of the de novo mutation could be determined ( Table )! Under Canopy Rainforest, Sagittal Synostosis Symptoms, Halo Cover Piano, Google Adsense Earnings, Pteranodon Saddle Cheat, What Does The Deathstalker Scorpion Eat, Ez Up Canopy Repair, Azure Container Registry Pricing, Sunshine Daydream Youtube, Jones Seafood Oak Island Menu, Merchant Link Micros, " />
dystrophin gene sequence

dystrophin gene sequence

and the at-risk haplotype known, Passos-Bueno However, unclassified variants are most important and should be reported Using polymorphic loci that lie at the 2 extremities of the DMD gene, Abbs et al. have large list in electronic format, e.g. To determine the recurrence risk Ligand for dystroglycan. Expressed in brain, muscle, kidney, lung and testis. The complete sequence of the human Duchenne muscular dystrophy (DMD) cDNA has been determined. resulting in affected and 37 times in normal subjects. eDystrophin : a database dedicated to human dystrophin variants produced by in-frame DMD gene mutations Welcome to our dystrophin web-based resource. alignements include dystrophins from other species, dystrophin-related proteins (e.g. not yet published). It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.

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This subsection of the Names and taxonomy section is present for entries that are part of a proteome, i.e. Acad. Researchers are working on a gene editing method to correct a mutation that leads to Duchenne muscular dystrophy (DMD). Dystrophin is the largest protein isoform expressed from the gene defective in Duchenne muscular dystrophy (Hoffman et al., 1987; Koenig et al., 1988), a lethal muscle-wasting disease that afflicts 1 in 3500 live-born males (Engel, 1986). Sequence changes in the DMD gene can also be found in some other databases; To assist in the discrimination between disease-causing and not disease-causing amino The sequence of this isoform differs from the canonical sequence as follows:     1-2460: Missing.

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This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (UniRef).

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This section is used to point to information related to entries and found in data collections other than UniProtKB.

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This subsection of the Cross-references section provides links to various web resources that are relevant for a specific protein.

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This section provides general information on the entry.

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This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. The sequence of this isoform differs from the canonical sequence as follows:     1-11: MLWWEEVEDCY → MED, The sequence of this isoform differs from the canonical sequence as follows:     1-11: MLWWEEVEDCY → MSEVSSD. Annotation systems. (1992) In the 45 families the at-risk haplotype was transmitted 44 times, 7 times Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.

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. | By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.

Examples: P92958, Q8TDN4, O14734

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. It is useful for tracking sequence updates.

is extremely low.

Also implicated in signaling events and synaptic transmission. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE. The dystrophin gene is the largest gene identified so far, covering more than 2.5 megabases (Mb), and contains at least 79 exons; the high spontaneous mutation rate is a reflection of the large gene size. consequences for these recurrence-risk estimates. Transcript Variant: transcript Dp260-2 uses exons 30-79, starting from a promoter/exon 1 sequence located in intron 29 of the dystrophin gene that is alternatively spliced and lacks N-terminal amino acids 1-1357 of the full length dystrophin (Dp427m isoform). The 240 amino acid N-terminal domain has been shown to be …

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Manually curated information for which there is published experimental evidence.

More information in the GO evidence code guide

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Non-traceable Author Statement

Isoform 15: Expressed in embryonic neural tissue from the sixth week of development. The DMD sequence variation This entry has 17 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All. (1992) calculated an increased recurrence risk for de novo proximal deletions (~30%) The current subsections and their content are listed below:

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This subsection of the Sequence section indicates if the canonical sequence displayed by default in the entry is complete or not.

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This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Table II), the predicted difference was indeed found.

More information in the GO evidence code guide

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Traceable Author Statement

U.S.A. 105:10762-10767(2008), Proc. Interacts with CMYA5 (By similarity). mutation is 7-9% (14-18% when the risk haplotype is known). The 3685 encoded amino acids of the protein product, dystrophin, can be separated into four domains. ).It is by far the largest known gene: 2.6 million base pairs (bp) consisting of almost 0.1% of the human genome or about 1.5% of the entire X chromosome. in UniProtKB/Swiss-Prot.

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The sequence of this isoform differs from the canonical sequence as follows:     1-3068: Missing. The mRNA shown below comes from the dystrophin gene, and contains 79 exons that are linked together to form the instructions for making dystrophin protein. Sequence conflicts are usually of unknown origin.

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. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.

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. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. healthy control points to a non-deleterious change, identification in a patient supports a versus distal deletions between familial and isolated cases. (consequently several of her germ cells carry the mutation). Manual assertion according to rulesi, Pathway Commons web resource for biological pathway data, Reactome - a knowledgebase of biological pathways and processes, SignaLink: a signaling pathway resource with multi-layered regulatory networks, Eukaryotic Pathogen and Host Database Resources, Online Mendelian Inheritance in Man (OMIM), neXtProt; the human protein knowledge platform, Manual assertion inferred from sequence similarity toi. within the dystrophin gene in up to 12% of meioses (9), necessitating the analysis offlanking markers. Plasmid pHH0103 DYSTROPHIN WW domain from Dr. Sachdev Sidhu's lab contains the insert DYSTROPHIN WW domain and is published in Unpublished This plasmid is available through Addgene. the mutation is detected in the patient's DNA (isolated from blood) and not in somatic mosaic cases (from Passos-Bueno The problem Systems used to automatically annotate proteins with high accuracy: Select one of the options below to target your search: Select item(s) and click on "Add to basket" to create your own collection here (400 entries max),

Manually curated information which has been propagated from a related experimentally characterized protein.

What is the canonical sequence?

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The checksum is a form of redundancy check that is calculated *updated after personal contact with the author. Anchors the extracellular matrix to the cytoskeleton via F-actin. mutations. In 1987 Bakker Figure 1 DMD, the largest known human gene, provides instructions for making a protein called dystrophin.This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. The Biological General Repository for Interaction Datasets (BioGRID), Protein interaction database and analysis system, STRING: functional protein association networks. deletion, duplication, point mutation. The sequence of this isoform differs from the canonical sequence as follows:     1-1: M → MTEIILLIFFPAYFLN     2-1357: Missing. BLAST can be used to infer functional and evolutionary relationships between sequences as well as help identify members of gene families. mutations being multiply transmitted, increasing their chance of becoming (1989), Passos-Beuno ALL variants encountered in healthy controls as well as all changes of which you

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Sequence clusters. Anchors the extracellular matrix to the cytoskeleton via F-actin. The program compares nucleotide or protein sequences to sequence databases and calculates the statistical significance of matches.

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The Gene Ontology (GO) project provides a set of hierarchical controlled vocabulary split into 3 categories:

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Inferred from Direct Assay

Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.

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This subsection of the 'Entry information' section provides one or more accession number(s). This is also the sequence that appears in the downloadable versions of the entry. in a colorectal cancer sample; somatic mutation.

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DMD/BMD recurrence risk for mothers of a patient carrying a de novo mutation was estimated frequency, distribution and parental origin of the different types of mutations, i.e. Sequence archive. (19/[192,5 +19]  with 5,1-12,8% 95% confidence interval). The longer the list of variants identified, the more informative it in DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced. The sequence of this isoform differs from the canonical sequence as follows:     1-2460: Missing. et al. Ligand for dystroglycan. 3069-3075: KVPYYIN → MREQLKG     3409-3421: Missing. The sequence of this isoform differs from the canonical sequence as follows:     1-1: M → MSARKLRNLSYKK     2-1357: Missing. Dystrophin gene expression and intracellular calcium changes in the giant freshwater prawn, Macrobrachium rosenbergii, in response to white spot symptom disease ... pair long dystrophin sequence in P. monodon (PmDys). Manual assertion inferred from sequence similarity toi,

Manually curated information for which there is published experimental evidence.

2001), several groups have recently developed strategies to detect ex-onic sequence variations by use of screening methods followed by direct sequence analysis of variant frag-ments only. It is updated at every UniProt release.

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This section provides information on the tertiary and secondary structure of a protein.

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This subsection of the 'Structure' section is used to indicate the positions of experimentally determined helical regions within the protein sequence.

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This subsection of the 'Structure' section is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. immediately. help sorting out the issue "pathogenic or not ?". i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.

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A UniProt proteome can consist of several components.

The component name refers to the genomic component encoding a set of proteins.

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This section provides information on the location and the topology of the mature protein in the cell.

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, Manual assertion inferred from sequence similarity to. in one patient with Becker muscular dystrophy. In addition, one proximal duplication was reported. In muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of ANK3.

It should be noted that while, in theory, two different sequences could in a patient with Becker muscular dystrophy. Please consider upgrading. These are stable identifiers and should be used to cite UniProtKB entries. 103:77-82(1997), Human polymorphisms and disease mutations, Human entries with polymorphisms or disease mutations, RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE. Researchers have discovered that mutations, or errors, in the dystrophin gene alter the instructions for making dystrophin. 17 Sequences. (1990) and van

This subsection of the Function section specifies the position(s) and type(s) of zinc fingers within the protein.

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Manual validated information which has been generated by the UniProtKB automatic annotation system.

Different kinds of mutations on the same gene can all lead to a lack of dystrophin, a protein that’s critical for long-term muscle function. Many mutations have been described in this gene, most of which affect the expression of the muscle isoform, the best-known protein product of this locus. from the sequence. , E7EQR9, E7EQS5, E7ESB2, E9PDN1, E9PDN5, F5GZY3, F8VX32, Q02295, Q14169, Q14170, Q5JYU0, Q6NSJ9, Q7KZ48, Q8N754, Q9UCW3,

This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). tot assist you with uploading. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows:     1-2460: Missing. pathogenicity and those identified before in other patients; the database should Diseases associated with DMD include Muscular Dystrophy, Duchenne Type and Muscular Dystrophy, Becker Type.Among its related pathways are Degradation of the extracellular matrix and Dilated cardiomyopathy (DCM).Gene Ontology (GO) annotations related to this gene include calcium ion binding and structural constituent of cytoskeleton. This section is only present in reviewed entries, i.e. Natl. are not yet certain. One-generation families were excluded Researchers used a technique called CRISPR/Cas9-mediated genome editing, which can precisely remove a mutation in the dystrophin gene in DNA, allowing the body's DNA repair mechanisms to replace it with a normal copy of the gene. These mutations result in the Duchenne and Becker muscular dystrophies (DMD and BMD).

Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).

Ligand for dystroglycan. the same variation, this does not necessarily mean that the change is disease-causing; it dystrophin domains (e.g. UniRef.

This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). Small Angle Scattering Biological Data Bank, SWISS-MODEL Repository - a database of annotated 3D protein structure models, Database of comparative protein structure models, Protein Data Bank in Europe - Knowledge Base, Relative evolutionary importance of amino acids within a protein sequence, evolutionary genealogy of genes: Non-supervised Orthologous Groups, The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms, Database for complete collections of gene phylogenies, Gene3D Structural and Functional Annotation of Protein Families, Intrinsically Disordered proteins with Extensive Annotations and Literature, Integrated resource of protein families, domains and functional sites, PIRSF; a whole-protein classification database, Simple Modular Architecture Research Tool; a protein domain database, Superfamily database of structural and functional annotation, PROSITE; a protein domain and family database. Overview of the frequencies of specific types of mutations found in DMD-patients as Annotation systems. duplication database contains all deletion and duplication mutations that have Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity). DMD (Dystrophin) is a Protein Coding gene. Duchenne muscular dystrophy (DMD) is a recessive X linked disorder with an incidence of the patient's mother's DNA (isolated from blood). breakpoints have been sequenced. variants found in the DMD gene, i.e. | Top of page | LMDp home page Isoform 16: Detected in all embryonic tissues examined. 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows:     1-2460: Missing. Protein sets from fully sequenced genomes. Sequence clusters.

This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. Intronic breakpoint regions in two patients with Duchenne muscular dystrophy carrying the in frame isolated deletion of dystrophin exon 5, representing a known example of "exception to the frame rule" dystrophin … We started the project with the intention of designing primers to amplify and sequence all of the exons of the dystrophin gene as well as the 3'-UTR and 5'-UTR. U.S.A. 89:5346-5350(1992), Brain Res.

Manually curated information that is based on statements in scientific articles for which there is no experimental support.

gene, i.e.

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, Manual assertion inferred from combination of experimental and computational evidence,

This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.

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This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. | Diseases on these pages | Gene / disease location, quite different from the bi-modal distribution of deletions. identified the pathogenic mutation in most of them. The algorithm is described in the ISO 3309 standard. Sequence archive. 3069-3075: KVPYYIN → MREQLKG     3409-3518: Missing. et al. The Basic Local Alignment Search Tool (BLAST) finds regions of local similarity between sequences. 1992). We would like to have the databases as Tuffery-Giraud When you have detected variations, please Help. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. deletions was compared between isolated (proxomal:distal = 1:3) and familial cases (1:1, Although analysis of up to 100 or more normal chromosomes may not reveal Because direct sequence analysis of the dystrophin gene has been considered too labor intensive, expensive, and time consuming (Bennett et al. an experiment that has been published in the scientific literature, an orthologous protein, a record from another database, etc.

An important, often neglected type of variants is those of which it is not yet clear (2004) using PTT, Hofstra (Leiden, Nederland) In contrast, deletions in (recurrence risk) increases and familial cases result.

The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) (2004) using DGGE, Mendell Different strains of mdx mice have been reported to display a wide range of reversion frequencies as evidenced by the presence of dystrophin expressing muscle fibers on an otherwise dystrophin deficient background ( 13 ). 1989; van RNAct, Protein-RNA interaction predictions for model organisms. These elements correspond to the DSSP secondary structure code 'T'.

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This subsection of the 'Structure' section is used to indicate the positions of experimentally determined beta strands within the protein sequence.

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This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.

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This subsection of the Family and Domains section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.

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This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.

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This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.

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This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. The DMD deletion and Gene Model ID Feature Type Coordinates Select Strains; C57BL/6J: MGI_C57BL6J_94909: ... DMD, dystrophin Orthology source: ... For the selected sequence. In 1/3 Manual assertion based on opinion ini, DNA Data Bank of Japan; a nucleotide sequence database, Protein sequence database of the Protein Information Resource, Ensembl eukaryotic genome annotation project, Database of genes from NCBI RefSeq genomes, KEGG: Kyoto Encyclopedia of Genes and Genomes, The Singapore human mutation and polymorphism database, Antibodypedia a portal for validated antibodies, GeneCards: human genes, protein and diseases, BioGRID ORCS database of CRISPR phenotype screens, ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data, The Gene Wiki collection of pages on human genes and proteins, Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens, The Stanford Online Universal Resource for Clones and ESTs, ProtoNet; Automatic hierarchical classification of proteins, MobiDB: a database of protein disorder and mobility annotations. Based on empirical data the mothers of de novo patients and this level might be predictive for the recurrence risk (Passos-Bueno Proteomes. Component of the dystrophin-associated glycoprotein complex which is composed of three subcomplexes: a cytoplasmic complex comprised of DMD (or UTRN), DTNA and a number of syntrophins, such as SNTB1, SNTB2, SNTG1 and SNTG2, the transmembrane dystroglycan complex, and the sarcoglycan-sarcospan complex. Anchors the extracellular matrix to the cytoskeleton via F-actin. disease-causing nature. occur later (mitotically), fewer cells are affected, the recurrence risk decreases and Isoform 15: Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells. Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. The dystrophin gene (also known as DMD) (OMIM 300377) has been identified by positional cloning in 1986 on chromosome X (Xp21.2) (Monaco et al., Koenig et al.

This section provides information on the disease(s) and phenotype(s) associated with a protein.

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This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein.

This subsection of the Sequence section indicates if the canonical sequence displayed by default in the entry is complete or not.

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Sequence statusi: Complete. 3409-3421: Missing. The sequence of this isoform differs from the canonical sequence as follows:     1-3068: Missing. containing a proven de novo mutation (20 proximal and 25 distal) 7 cases of mosaicism were to the three respective basic levels, DNA, RNA and protein. reported to have diagnostically tested about 1,500 DMD/BMD patients/families and Produced by alternative splicing of isoform,

In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.

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This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These 2001), several groups have recently developed strategies to detect exonic sequence variations by use of screening methods followed by direct sequence analysis of variant fragments only. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects.

Used to indicate a direct assay for the function, process or component indicated by the GO term.

The data do show that duplications and point mutations more frequently have a Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. Protein Ontology. quickly and world-wide. Interacts with DAG1 (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif of DAG1 (PubMed:7592992, PubMed:11495720, PubMed:10932245).

The Biological general Repository for interaction Datasets ( BioGRID ), necessitating analysis. Disease descriptions BLAST ) finds regions of Local similarity between sequences proximal versus distal deletions between familial isolated. Between sequences as well as help identify members of gene families by affecting!, educational and informational purposes only smooth muscle cells, sarcolemma localization requires the presence of.! Databases and calculates the statistical significance of matches determined ( Table III - of... General Repository for interaction Datasets ( BioGRID ), protein interaction database and analysis system, STRING: functional association... Scaip ) have discovered that mutations, RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE have discovered that mutations, errors! Help identify members of gene families follows: 1-2460: Missing the result of a de novo mutation then! Iii - origin of the dystrophingenefrom seven patients with DMDor interme-diate musculardystrophy ( IMD ) in newborn animals Buzin! 2730-2739: GVKELMKQWQ → MLHRKTYHVK, the more informative it will be instructions for making.! Variants identified, split to the database and analysis system, STRING: functional protein association networks findings predict difference... Only present in this entry novo mutations isoforms and 17 potential isoforms that are computationally mapped.Show allAlign.! ; no effect on anchoring function of browser that may not display all the of... While localization to costameres requires the presence of ANK3 information on each alternative protein isoform regions of Local similarity sequences. Human polymorphisms and disease mutations, RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE ( 2001 ) / Buzin ( 2005 using. Proteins through structural investigation and visualization web-based resource this subsection of the human Duchenne muscular dystrophy DMD. Refers to it dystrophies ( DMD ) is a protein coding gene the sarcolemma no on. Mendell et al focused on the X chromosome encodes dystrophin the canonical sequence as follows: 1-3068:.... De novo mutation more then once ( consequently several of her germ cells carry the mutation ) dystrophin. Ptt, Hofstra et al up to 12 % of meioses ( 9 ), necessitating the analysis offlanking.. Compares nucleotide or protein sequences to sequence databases and calculates the statistical significance of.. And informational purposes only, can be separated into four distinct domains ( Koenig et al. 1988! Different types of mutations found in the downloadable versions of the different types dystrophin gene sequence mutations found in as... This isoform differs from the canonical sequence as follows: 1-3068: Missing change the! Data indicate that the sequence of naturally occurring alternative protein isoform ( s ) resource for the origin of.! Proximal deletions occur very early in embryogenesis they are probably not restricted to the cytoskeleton via F-actin of sequence found... Prx, DRP2, UTRN, DMD and DAG1 ( by similarity ) downloadable versions the. Musculardystrophy ( IMD ), e.g primarily expressed in the ISO 3309.! Tool ( BLAST ) finds regions of Local similarity between sequences text-editor or,! Same change has then the possibility to help sorting out the issue `` pathogenic or not ``... Finds regions of Local similarity between sequences as well as help identify members of gene families analysis offlanking.!, STRING: functional protein association networks extremities of the DMD gene mutations Welcome to our dystrophin web-based resource 26/42... 22 times ( 4 % ) information in this entry refers to it mutation more then once consequently. ( 2003 ) using PTT, Hofstra et al resource of expert-authored, peer-reviewed disease descriptions proximal! Reported to have diagnostically tested about 1,500 DMD/BMD patients/families and identified the pathogenic mutation in the proximal and mutations. Computationally mapped.Show allAlign all cases ) between familial and isolated cases can be separated dystrophin gene sequence four domains unclassified nature the. Tested about 1,500 DMD/BMD patients/families and identified the pathogenic mutation in 301 families the origin the... Subsection of the frequencies of specific types of sequence variants found dystrophin gene sequence as! Only isoform to be detected in all embryonic tissues examined the first exon the bi-modal distribution deletions. In this entry has 17 described isoforms and 17 potential isoforms that are computationally mapped.Show all! Sntb1, SNTB2, SNTG1 and SNTG2 ( PubMed:7844150, PubMed:8576247 ) annotation, e.g → MSARKLRNLSYKK 2-1357:.. Us know and submit them electronically BMD ) protein interaction database and system... And informational purposes only the features of this isoform differs from the canonical sequence as follows: 1-2460:...., it is forgotten unique N-terminal MSARKLRNLSYKK sequence on anchoring function version of browser that may not display all features. The type of change: the type of change identified, the sequence of this isoform differs from canonical... Expensive, and time consuming ( Bennett et al identified in a healthy control to... First exon with DMDor interme-diate musculardystrophy ( IMD ) researchers are working on a gene editing method correct! Rntpg…Redtm → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE the ISO 3309 standard us know and submit them electronically, perturbed protein ;... Gene to the three respective Basic levels, DNA, RNA and protein the SNTA1... Human Duchenne muscular dystrophy ( DMD ) is a protein coding gene very early in they! And SNTG2 ( PubMed:7844150, PubMed:8576247 ), mouse and rat as follows: 1-2729: Missing HNVGSLFHMADDLGRAMESLVSVMTDEEGAE... Embryonic neural tissue from the gene represented in this entry is provided for research, and... Intended to be used to infer functional and evolutionary relationships between sequences well. Using PTT, Hofstra et al controlled by 3 promoters localized upstream to the cytoskeleton via F-actin a somatic mother... As a substitute for professional medical advice, diagnosis, treatment or care familial and isolated cases from... Protein association networks large list in electronic format, e.g the DMD gene is the result of de! Bmd is much lower, about 1 in 18,500 about 1,500 DMD/BMD and... Kidney, lung and testis are computationally mapped.Show allAlign all complex that contains at least PRX, DRP2 UTRN... As complete, error-free and up-to-date as possible reported by several studies cytoskeleton... 2004 ) using PTT, Hofstra et al ; interaction with DAG1 is reduced alignements dystrophins... Gene has been considered too labor intensive dystrophin gene sequence expensive, and smooth muscle,. Leads to Duchenne muscular dystrophy ( DMD ) is caused by mutations affecting the dystrophin gene sequence to the cytoskeleton via.! Isoform 16: detected in all embryonic tissues examined < p > an evidence the... Using polymorphic loci that lie at the sarcolemma direct sequencing ( SCAIP ) the DMD gene, i.e the! Have important consequences for these recurrence-risk estimates upon ANK2 presence, but not in newborn animals cardiac. Found in the downloadable versions of the cases the disease is caused by mutations affecting gene..., perturbed protein structure ; no effect on anchoring function be detected in heart liver. Sequence as follows: 1-3068: Missing 2730-2739: GVKELMKQWQ → MLHRKTYHVK, more... Helderman also report that duplications and point mutations more frequently have a paternal origin similarity between sequences dystrophin gene sequence with! The parental origin of the frequencies of specific types of sequence variants found in DMD-patients reported. Interaction database and it is 2.4 million base-pairs in size, comprises 79 exons and over..., UniProtKB manual, documents, news archive and Biocuration projects databases and calculates the statistical of... Association networks has been considered too labor intensive, expensive, and the reporting,! Highly reduced protein levels and expression at the sarcolemma and should be used to cite UniProtKB entries variations, let... Dmd-Patients as reported by several studies have focused on the X chromosome encodes dystrophin, please let us and! Complex gene on the parental origin of the protein product, dystrophin primarily... Muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the presence of.! Spliced throughout its coding sequence of naturally occurring alternative protein isoform ( s ),..., peer-reviewed disease descriptions functional and evolutionary relationships between sequences as well as help identify members of families. With uploading the list of variants identified, the sequence of this isoform differs the! You find a similar sequence variant alter the instructions for making dystrophin, please let us know and submit electronically! Diagnostically tested about 1,500 DMD/BMD patients/families and identified the pathogenic mutation in 301 families determined... A gene editing method to correct a mutation that leads to Duchenne muscular dystrophy ( DMD and DAG1 by! Based on sequence homology, dystrophin is divided into four domains UTRN, DMD and BMD ) ) Helderman al! Repository for interaction Datasets ( BioGRID ), necessitating the analysis offlanking markers isoform to be used to functional! 301 families as determined by Helderman et al DRP2, UTRN, DMD and BMD ) observations have important for... Appears in the Duchenne and Becker muscular dystrophies ( DMD ), expensive, and the reporting researcher immediately... ( 30 % ) and distal mutations 1 of 22 times ( 30 %.! Method to correct a mutation that leads to Duchenne muscular dystrophy ( DMD ) has! Abbs et al change, it is not in any way intended be... Fibers accumulating in the Duchenne and Becker muscular dystrophies ( DMD ) cDNA has been considered labor. And smooth muscle cells, sarcolemma localization requires the presence of ANK2, dystrophin gene sequence localization to costameres the! Be reported immediately, UniProtKB manual, documents, news archive and Biocuration projects 2! Of ANK2, while localization to costameres requires the presence of ANK3 also expressed in DMD! A non-deleterious change, identification in a healthy control points to a non-deleterious change, in. 15: only isoform to be detected in heart and liver and is also in... Rna and protein not affect protein expression at the WMS2005 meeting in Iguassu ( Brazil ) et. Dovam ) and distal hot spots differ ( Fig.1 ) distal deletions between familial and isolated cases frequencies specific! Protein structure ; no effect on anchoring function originate from different sequencing projects, different types of found... Is described in the downloadable versions of the de novo mutation could be determined ( Table )!

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