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Results for the Protein: NP_004013
5032311
DMD

dystrophin Dp140ab 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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2
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Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

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


RefSeq Protein: NP_004013
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SPECcd001767.2e-37230473
SPECcd001761.4e-21475726
WWcd002015.6e-12598628
ZZcd022491.5e-06851899
ZZ_dystrophincd023343.8e-30851899
Spectrinpfam004350.0004410117
Spectrinpfam004359e-14120226
Spectrinpfam004353.8e-05229342
Spectrinpfam004352.6e-20474580
WWpfam003972e-11597626
ZZpfam005691.8e-24847892
SPECsmart001503.3e-1713116
SPECsmart001501.1e-07123225
SPECsmart001501.6e-18232341
SPECsmart001507.1e-11348470
SPECsmart001501.1e-15477579
WWsmart004561.1e-11597628
efhand_1pfam090687.4e-74627747
efhand_2pfam090692.6e-64751842
ZnF_ZZsmart002912.9e-17847891

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1800280 Polymorphismp.ARG477GLNN/A
dbSNPrs1800278 Polymorphismp.ASN452ASPN/A
OMIM300377.0070 Diseasep.ALA1VALBECKER MUSCULAR DYSTROPHY
OMIM300377.0082 Diseasep.ARG445TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0005 Diseasep.ARG522TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0076 Diseasep.ARG730TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0007 Diseasep.ARG910TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0067 Diseasep.ARG921TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0062 Diseasep.ASN452ASPDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0026 Diseasep.CYS880TYRDUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG||B-WAVE
OMIM300377.0060 Diseasep.GLU8TERDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0061 Diseasep.GLU450VALDUCHENNE MUSCULAR DYSTROPHY
OMIM300377.0063 Diseasep.HIS461ARGBECKER MUSCULAR DYSTROPHY
OMIM300377.0064 Diseasep.SER606TERDUCHENNE MUSCULAR DYSTROPHY



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