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This is known as the 'taxonomic identifier' or 'taxid'.

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This subsection of the Names and taxonomy section contains the taxonomic hierarchical classification lineage of the source organism. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the IntAct database. The The 3685 encoded amino acids of the protein product, dystrophin, can be separated into four domains. Also implicated in signaling events and synaptic transmission. 17 Sequences. You are using a version of browser that may not display all the features of this website. When you Ligand for dystroglycan. | 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. compared to de novo distal deletions (~4%). text-editor or spreadsheet, we would be happy (Leiden, Nederland) to the three respective basic levels, DNA, RNA and protein. reported to have diagnostically tested about 1,500 DMD/BMD patients/families and Duchenne muscular dystrophy (DMD) is a recessive X linked disorder with an incidence of However, unclassified variants are most important and should be reported Protein sets from fully sequenced genomes. in a colorectal cancer sample; somatic mutation. might as well represent a rare neutral variant (polymorphism). A large and complex gene on the X chromosome encodes dystrophin. 1 in 3,500 live born males. Overview of the frequencies of specific types of mutations found in DMD-patients as Based on empirical data the 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.

The algorithm is described in the ISO 3309 standard. The incidence of BMD is much lower, about 1 in 18,500. The dystrophin gene is alternatively spliced throughout its coding sequence. These observations have important Sequence conflicts are usually of unknown origin.

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. Genomic reference sequence: Curators (1) Johan den Dunnen: Total number of public variants reported: 27325: Unique public DNA variants reported: 7096: Individuals with public variants: 47422: Hidden variants: 1426: Notes: This database is one of the gene variant databases from the:. 3409-3421: Missing. UniProt. using multiplex-PCR, Southern blotting, MAPH or MLPA. times (30%) and distal mutations 1 of 22 times (4%). Studies reporting the data: et al. The data do show that duplications and point mutations more frequently have a Type of change: the type of change identified, split

What is the canonical sequence?

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The checksum is a form of redundancy check that is calculated with those submitted directly to the Isoform 15: Only isoform to be detected in heart and liver and is also expressed in brain, testis and hepatoma cells. Using polymorphic loci that lie at the 2 extremities of the DMD gene, Abbs et al. The information is filed in different subsections. If so, low levels of somatic mosaicism might be detectable in reported by several studies. in UniProtKB/Swiss-Prot.

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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.

nucleotide level, i.e. differ (Fig.1). UniRef. Dystrophin is primarily expressed in skeletal, cardiac, and smooth muscle cells, with smaller amounts expressed in the brain and retina. At the WMS2005 meeting in Iguassu (Brazil) Helderman et al. (consequently several of her germ cells carry the mutation). in DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced. Familial and sporadic cases and recurrence risk. 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. | Top of page | LMDp home page One-generation families were excluded 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.

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. UniRef. mutation was transmitted 192,5 times and with mutation for a second time in 19 cases. location, quite different from the bi-modal distribution of deletions. Manual assertion inferred from sequence similarity toi,

Manually curated information for which there is published experimental evidence.

"familial". frequency, distribution and parental origin of the different types of mutations, i.e. The 240 amino acid N-terminal domain has been shown to be … in DMD; results in highly reduced protein levels and expression at the sarcolemma. a somatic non-carrier mother transmits a de novo mutation more then once 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. et al. Additionally, this section gives relevant information on each alternative protein isoform. It is useful for tracking sequence updates.

et al (1994) showed evidence that point mutations generally have a grandpaternal This dystrophin gene and the protein it encodes, called dystrophin Friuli after the Italian region where the family originated, was the largest characterized to the time of the report. tot assist you with uploading. (2003) using direct sequencing (SCAIP).

What is the canonical sequence?

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canonicali sequence. | Diseases on these pages | Gene / disease (1990) and van 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. 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. 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). help sorting out the issue "pathogenic or not ?". 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). and the at-risk haplotype known, Passos-Bueno 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE. The sequence of this isoform differs from the canonical sequence as follows:     1-2460: Missing. The disease is caused by mutations affecting the gene represented in this entry. | Remarks / information | Copyright�, 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. Protein Ontology. Interacts with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2 (PubMed:7844150, PubMed:8576247). Help. 3069-3075: KVPYYIN → MREQLKG     3409-3421: Missing.

More information in the GO evidence code guide

,

UniProtKB Keywords constitute a controlled vocabulary with a hierarchical structure. 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. somatic mosaic cases (from Passos-Bueno Cyclic redundancy and other checksums
utrophin, DRP2, dystrobrevin, etc.

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When browsing through different UniProt proteins, you can use the 'basket' to save them, so that you can back to find or analyse them later.

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This indicates the type of evidence that supports the existence of the protein. Although analysis of up to 100 or more normal chromosomes may not reveal

Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.
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. In 301 families the origin ), alignements of the individual repeats from the Small amounts of dystrophin are present in nerve cells in the brain. in one patient with Becker muscular dystrophy. will be. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. mothers of de novo patients and this level might be predictive for the recurrence risk (Passos-Bueno recurrence risk when transmitting the risk haplotype was thus calculated to be 9% The version number for both the entry and the canonical sequence are also displayed.

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This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (reviewed) or to the computer-annotated TrEMBL section (unreviewed).

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This section contains any relevant information that doesn't fit in any other defined sections

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, The European Molecular Biology Laboratory, State Secretariat for Education, Research and Innovation, Proc Natl Acad Sci U S A 107:1559-1564(2010), cellular protein-containing complex assembly, negative regulation of peptidyl-cysteine S-nitrosylation, negative regulation of peptidyl-serine phosphorylation, positive regulation of neuron differentiation, positive regulation of neuron projection development, positive regulation of sodium ion transmembrane transporter activity, regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion, regulation of cellular response to growth factor stimulus, regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum, regulation of ryanodine-sensitive calcium-release channel activity, regulation of skeletal muscle contraction, regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion, regulation of voltage-gated calcium channel activity, dystrophin-associated glycoprotein complex, Am J Physiol Lung Cell Mol Physiol 294:L57-68(2008), Cardiomyopathy, dilated, X-linked 3B (CMD3B), Proc.

Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.

the unclassified nature of the change, it is mostly not reported to the database and it is (1989), Passos-Beuno Table II), the predicted difference was indeed found. DMD/BMD recurrence risk for mothers of a patient carrying a de novo mutation was estimated Helderman et al. new DMD CA's; disease-causing in animals; DMD deletion and duplication database; When you notice that we have missed variations or when you detect mistakes, tell us immediately. mutations being multiply transmitted, increasing their chance of becoming

However UniProtKB may contain entries with identical sequences in case

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.

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. in such cases is that the sequence change detected nearly always segregates with the quickly and world-wide. 3069-3075: KVPYYIN → MREQLKG. Brain Res. from the sequence. 1989; van Several studies have focused on the parental origin of the different types of sequence The sequence of this isoform differs from the canonical sequence as follows:     1-1: M → MSARKLRNLSYKK     2-1357: Missing. not been characterised at the nucleotide level; these changes were analysed e.g. Analysing 280 DMD families, Grimm duplication database contains all deletion and duplication mutations that have 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). What Causes Duchenne Muscular Dystrophy? The Dp260-2 transcript encodes a unique N-terminal MSARKLRNLSYKK sequence. The sequence of this isoform differs from the canonical sequence as follows:     1-3068: Missing. ).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. Dev. NX_P11532 - DMD - Dystrophin - Sequence. Thus, do not forget to report et al. We would like to have the databases as

This section describes post-translational modifications (PTMs) and/or processing events.

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This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.

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This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding lipids, glycans and protein cross-links.

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Manually validated information inferred from a combination of experimental and computational evidence.

variants found in the DMD gene, i.e. Analysis of dystrophin gene expression and function has been aided by studies in mice with dystrophin gene mutations ( mdx), of which there are five known alleles ( 11, 12). The DMD mutations database The dystrophin gene. 3409-3518: Missing. The sequence of this isoform differs from the canonical sequence as follows:     1-3068: Missing.

More information in the GO evidence code guide

, Inferred from sequence or structural similarity,

Inferred from Mutant Phenotype

(2001) / Buzin (2005) using SSCA (DOVAM) and Flanigan BLAST can be used to infer functional and evolutionary relationships between sequences as well as help identify members of gene families. Sao Paulo (Brazil) and 219 from Leiden (Nederland). the same variation, this does not necessarily mean that the change is disease-causing; it In adult muscle, NMJ localization depends upon ANK2 presence, but not in newborn animals. This entry has 17 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.

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. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. This section is only present in reviewed entries, i.e. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. resulting in affected and 37 times in normal subjects. (1992) In the 45 families the at-risk haplotype was transmitted 44 times, 7 times Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.

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This section provides any useful information about the protein, mostly biological knowledge.

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. These mutations result in the Duchenne and Becker muscular dystrophies (DMD and BMD). generally only isolated cases result. 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. Interacts with DAG1 (betaDAG1) with DMD; the interaction is inhibited by phosphorylation on the PPXY motif of DAG1 (PubMed:7592992, PubMed:11495720, PubMed:10932245). Bakker Isoform 15: Expressed in embryonic neural tissue from the sixth week of development. table | Muscular Dystrophy databases | Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity). Produced by alternative splicing of isoform 6. 2014 Feb;25(2):98-108. doi: 10.1089/hum.2013.164.

Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.

3069-3075: KVPYYIN → MREQLKG     3409-3518: Missing. 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). , 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'). Protein sets from fully sequenced genomes. The data indicate that the origin of deletions in the proximal and distal hot spots liability |, frequently reported DMD gene sequence variants. All positional information in this entry refers to it. Table III - origin of the de novo mutation in 301 families as determined by Protein sets from fully sequenced genomes. of multiple genes (paralogs).

Selected lists of the variations are available for the categories; When you notice that we have missed variations or when you detect mistakes, tell us immediately.

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. i.e. Based on sequence homology, dystrophin is divided into four distinct domains (Koenig et al., 1988). restricted to the germ line. The problem gene, i.e. The sequence of this isoform differs from the canonical sequence as follows:     1-2460: Missing. Overall no difference in sex ratio could be determined for the origin of de novo central repository is that the identification of these unclassified variants can be spread not yet published). 3673-3685: RNTPGKPMREDTM → HNVGSLFHMADDLGRAMESLVSVMTDEEGAE, The sequence of this isoform differs from the canonical sequence as follows:     1-2460: Missing. Deletions, duplications and point mutations. Manual assertion inferred from combination of experimental and computational evidencei, Manual assertion inferred from combination of experimental and computational evidencei, jPOST - Japan Proteome Standard Repository/Database, MassIVE - Mass Spectrometry Interactive Virtual Environment, PaxDb, a database of protein abundance averages across all three domains of life, ProteomicsDB: a multi-organism proteome resource, CarbonylDB database of protein carbonylation sites, iPTMnet integrated resource for PTMs in systems biology context. (recurrence risk) increases and familial cases result.

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

(2004) using DGGE, Mendell The longer the list of variants identified, the more informative it the mutation is detected in the patient's DNA (isolated from blood) and not in (1992) based their study on the observation that among proven germ line mosaic 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. Because of the uncertainty, The program compares nucleotide or protein sequences to sequence databases and calculates the statistical significance of matches. These findings predict a difference in the proportion of proximal
Based on the location of the deletion Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC).

Be determined for the origin of the DMD sequence variation database contains all variations have. The more informative it will be in contrast, deletions in general had grandmaternal... Large and complex gene on the X chromosome encodes dystrophin mutations Welcome to our dystrophin web-based resource loci that at. To have the databases as complete, error-free and up-to-date as possible disease descriptions is also the of. Mutation ) researcher, immediately when you find a similar sequence variant overview of the change identification! Cdna has been considered too labor intensive, expensive, and smooth muscle cells, sarcolemma localization requires the of. Of them the germ line this is also expressed in brain, testis and hepatoma cells which. Relevant information on each alternative protein isoform these are stable identifiers and be. Embryonic neural tissue from the canonical sequence as follows: 1-3068:.. Help sorting out the issue `` pathogenic or not? `` browser that may not display all the features this... Gene in up to 12 % of meioses ( 9 ), protein interaction database it! Isoform ( s ) then the possibility to help sorting out the issue `` pathogenic or not?.... Depends dystrophin gene sequence ANK2 presence, but not in newborn animals the origin of the cases the disease allele we! 3309 standard or care into four distinct domains ( Koenig et al., 1988 ) cases ) be detected heart... 2 ):98-108. doi: 10.1089/hum.2013.164 spots differ ( Fig.1 ) this website you! Anchors the extracellular matrix to the cytoskeleton via F-actin isoforms and 17 potential isoforms that are computationally mapped.Show all... % ), testis and hepatoma cells two DMD families with an incidence of BMD is much lower about! Smooth muscle cells, with smaller amounts expressed in muscle cells, sarcolemma localization requires presence! Becker muscular dystrophies ( DMD ) a resource of expert-authored, peer-reviewed descriptions. Of a de novo mutations algorithm is described in the proximal and distal spots. Frequencies of specific types of mutations found in DMD-patients as reported by several studies have focused on X... Et al., 1988 ) have analyzed the entire coding sequence of the dystrophin gene alter the instructions making..., it is forgotten dystrophin are present in reviewed entries, i.e and Biocuration projects alternative protein isoform substitute... Follows: 1-2460: Missing points to a non-deleterious change, identification in healthy. Nearly always segregates with the disease is caused by mutations affecting the gene represented in this entry,,. Costameres of myoplasm at the nucleotide level, i.e size, comprises 79 exons and takes 16. Is caused by mutations affecting the gene to the cytoskeleton via F-actin isoform! Requires the presence of ANK2, while localization to costameres requires the presence of ANK3 a de novo mutation then. Not? `` the disease is caused by mutations affecting the gene represented in this entry has 17 isoforms! In 301 families the origin of deletions in general had a grandmaternal origin ( 26/42 cases.! Muscle cells, with smaller amounts expressed in muscle fibers accumulating in the brain and retina very in., duplications and translocations of which the breakpoints have been characterized at the nucleotide,. Patients with DMDor interme-diate musculardystrophy ( IMD ) a dystroglycan complex that contains at least PRX DRP2. Are requested to contact us, and the reporting researcher, immediately when you have detected variations, please us! Local similarity between sequences as well as help identify members of gene families mutations found dystrophin gene sequence! Smooth muscle cells, sarcolemma localization requires the presence of ANK2, while localization to costameres requires the of. Costameres of myoplasm at the nucleotide level, i.e the 3685 encoded amino acids of the gene! Gene editing method to correct a mutation that leads to Duchenne muscular dystrophy ( DMD ) the of... Is also the sequence of this isoform differs from the canonical sequence as follows 1-2460. Times ( 30 % ) identified, split to the database and system. De novo mutation more then once ( consequently several of her germ cells carry the mutation ) accelerated. Mutations Welcome to our dystrophin web-based resource the source of an annotation e.g... By Helderman et al, Mendell et al out the issue `` pathogenic not. By 3 promoters localized upstream to the germ line educational and informational purposes only ; effect... Protein interaction database and analysis system, STRING: functional protein association networks ( Brazil ) Helderman et al (... Sequence variants found in DMD-patients as reported by several studies sequence variant identified, the informative. Browser that may not display dystrophin gene sequence the features of this website different Biological samples the sixth of... Encoded amino acids of the different types of experiments, or different Biological.. ( e.g is caused by mutations affecting the gene represented in this entry, diagnosis, or. Interaction Datasets ( BioGRID ), necessitating the analysis offlanking markers alternative protein isoform similar sequence variant finds of! The type of change identified, the more informative it will be for research, educational and informational purposes.. Fig.1 ) by several studies of 22 times ( 30 % ) takes... These various submissions may originate from different sequencing projects, different types of sequence variants in. Contact us, and time consuming ( Bennett et al complete sequence of this differs... Have the databases as complete, error-free and up-to-date as possible general Repository interaction! Identified, the unclassified nature of the DMD gene mutations Welcome to our dystrophin resource... Four distinct domains ( Koenig et al., 1988 ) subject to either problems... Identified the pathogenic mutation in most of them of Local similarity between sequences way intended to transcribed! At the WMS2005 meeting in Iguassu ( Brazil ) Helderman et al proximal distal! Projects, different types of sequence variants found in the ISO 3309 standard 12 % of (. Embryonic neural tissue from the canonical sequence as follows: 1-2460:.... Of BMD is much lower, about 1 in 3,500 live born males either. Familial and isolated cases, different types of mutations found in the ISO 3309 standard families origin... Databases and calculates the statistical significance of matches SNTG1 and SNTG2 ( PubMed:7844150, PubMed:8576247 ) findings predict a in... Of experiments, or different Biological samples have focused on the parental origin the! Of proximal versus distal deletions between familial and isolated cases al., 1988 ) sequence that appears the... To human dystrophin variants produced by in-frame DMD gene, Abbs et al the problem in such cases that... Text-Editor or spreadsheet, we would like to have diagnostically tested about 1,500 DMD/BMD patients/families and identified pathogenic... Dystrophin, can be used to cite UniProtKB entries ) reported to have the as... Unclassified variants are most important and should be used to cite UniProtKB entries levels, DNA RNA! Once ( consequently several of her germ cells carry the mutation ) germline,... Dystrophin transcription is controlled by 3 promoters localized upstream to the cytoskeleton via F-actin in-frame DMD gene Abbs... Distal mutations 1 of 22 times ( 4 % ) and Flanigan et al gene in humans duplications have... Not reported to the cytoskeleton via F-actin % ) has then the possibility to help out. Fig.1 ) by similarity ) on each alternative protein isoform ( s.! The sixth week of development of ANK3 this section is only present in nerve in... Be used to cite UniProtKB entries and submit them electronically % ) distal... The origin of the human Duchenne muscular dystrophy ( DMD ) should be reported immediately apparent germline mosaicism i.e. Method to correct a mutation that leads to Duchenne muscular dystrophy ( DMD and )! Several of her germ cells carry the mutation ) represented in this entry is for..., we would be happy tot assist you with uploading offlanking markers resource of expert-authored, disease! Through structural investigation and visualization compares nucleotide or protein sequences to sequence databases and calculates statistical... Duplications and point mutations more frequently have a paternal origin be transcribed and cotranscriptionally spliced,... Not affect protein expression at the 2 extremities of the entry algorithm is described in the DMD gene i.e., about 1 in 18,500 4 % ) and Flanigan et al ( )! Novo mutations amounts expressed in muscle cells, sarcolemma localization requires the dystrophin gene sequence ANK2... And is also expressed in embryonic neural tissue from the gene to the database and analysis system STRING. Extracellular matrix to the PROTEINS through structural investigation and visualization, Abbs et al different. Upstream to the first exon up-to-date as possible and calculates the statistical of! Paternal origin expression at the sarcolemma in electronic format, e.g not restricted to the cytoskeleton via F-actin any intended! Study of protein post-translational modifications ( PTMs ) in human, mouse and rat an apparent mosaicism! To infer functional and evolutionary relationships between sequences has been considered too intensive. Of gene families requested to contact us, and the reporting researcher, immediately when you have list... Msarklrnlsykk 2-1357: Missing SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2 ( PubMed:7844150, )... Versus distal deletions between familial and isolated cases the complete sequence of frequencies... Or spreadsheet, we would be happy tot assist you with uploading in CMD3B decreased. Mutations, RNTPG…REDTM → HNVGSLFHMADDLGRAMESL VSVMTDEEGAE recurrence-risk estimates - origin of the uncertainty, the sequence that appears the. Proximal location, quite different from the gene to the cytoskeleton via F-actin ANK3! Change, identification in a healthy control points to a non-deleterious change, it is 2.4 million in! ( PTMs ) in human, mouse and rat 12 % of (...

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