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Results for the Protein: NP_004003
5032291
DMD

dystrophin Dp260-2 isoform [Homo sapiens]

Known Diseases associated with this Protein:
  B-WAVE
  BECKER MUSCULAR DYSTROPHY
  DUCHENNE MUSCULAR DYSTROPHY
  DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG
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 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

SPEC - cd00176
SPEC - smart00150
Spectrin - pfam00435
WW - smart00456
WW - pfam00397
WW - cd00201
efhand_1 - pfam09068
efhand_2 - pfam09069
ZnF_ZZ - smart00291
ZZ - pfam00569
ZZ_dystrophin - cd02334
ZZ - cd02249


RefSeq Protein: NP_004003
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SPECcd001769.9e-36761976
SPECcd001761.6e-2911271344
SPECcd001767.2e-3713461589
SPECcd001761.4e-2115911842
WWcd002015.6e-1217141744
ZZcd022491.5e-0619672015
ZZ_dystrophincd023343.8e-3019672015
Spectrinpfam004351.7e-12227332
Spectrinpfam004351.5e-14335435
Spectrinpfam004354e-11533635
Spectrinpfam004351e-20760864
Spectrinpfam004356.2e-16867974
Spectrinpfam004350.0004411261233
Spectrinpfam004359e-1412361342
Spectrinpfam004353.8e-0513451458
Spectrinpfam004352.6e-2015901696
WWpfam003972e-1117131742
ZZpfam005691.8e-2419632008
SPECsmart001502.1e-08124223
SPECsmart001508.1e-19763863
SPECsmart001502.7e-11870973
SPECsmart001503.3e-1711291232
SPECsmart001501.1e-0712391341
SPECsmart001501.6e-1813481457
SPECsmart001507.1e-1114641586
SPECsmart001501.1e-1515931695
WWsmart004561.1e-1117131744
efhand_1pfam090687.4e-7417431863
efhand_2pfam090692.6e-6418671958
ZnF_ZZsmart002912.9e-1719632007

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs16990169 Polymorphismp.ARG764CYSN/A
dbSNPrs1800280 Polymorphismp.ARG1593GLNN/A
dbSNPrs1801187 Polymorphismp.ARG401HISN/A
dbSNPrs1800273 Polymorphismp.ARG811TRPN/A
dbSNPrs1800278 Polymorphismp.ASN1568ASPN/A
dbSNPrs16990264 Polymorphismp.ASN328LYSN/A
dbSNPrs28715870 Polymorphismp.PHE44VALN/A
OMIM300377.0070 Diseasep.ALA2077VALBECKER MUSCULAR DYSTROPHY
OMIM300377.0082 Diseasep.ARG1561TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0005 Diseasep.ARG1638TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0076 Diseasep.ARG1846TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0007 Diseasep.ARG2026TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0067 Diseasep.ARG2037TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0052 Diseasep.ARG623TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0054 Diseasep.ARG754TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0062 Diseasep.ASN1568ASPDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0026 Diseasep.CYS1996TYRDUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG||B-WAVE
OMIM300377.0051 Diseasep.GLN128TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0004 Diseasep.GLN507TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0050 Diseasep.GLN61TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0055 Diseasep.GLN781TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0057 Diseasep.GLN920TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0014 Diseasep.GLN975TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0060 Diseasep.GLU1124TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0061 Diseasep.GLU1566VALDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0063 Diseasep.HIS1577ARGBECKER MUSCULAR DYSTROPHY
OMIM300377.0064 Diseasep.SER1722TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0084 Diseasep.TYR651TERDUCHENNE MUSCULAR DYSTROPHY



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