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Results for the Protein: P11532
313104240
DMD

DMD_HUMAN RecName: Full=Dystrophin

Known Diseases associated with this Protein:
  BECKER MUSCULAR DYSTROPHY (BMD)
  CARDIOMYOPATHY, DILATED, X-LINKED 3B (CMD3B)
  DUCHENNE MUSCULAR DYSTROPHY (DMD)
14
33
0
0
47
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

SAC6 - COG5069
CH - cd00014
CH - pfam00307
CH - smart00033
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


Swiss-Prot Protein: P11532
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHcd000143.4e-2916119
CHcd000142.2e-33135240
SPECcd001761.6e-36340558
SPECcd001762.8e-22720936
SPECcd001762e-2710491265
SPECcd001764.4e-0912671476
SPECcd001763e-0814781678
SPECcd001769.9e-3621052320
SPECcd001761.6e-2924712688
SPECcd001767.2e-3726902933
SPECcd001761.4e-2129353186
WWcd002015.6e-1230583088
ZZcd022491.5e-0633113359
ZZ_dystrophincd023343.8e-3033113359
SAC6COG50691.8e-068556
CHpfam003071.5e-2616119
CHpfam003073.1e-28135240
Spectrinpfam004358.7e-21339447
Spectrinpfam004351.7e-18448556
Spectrinpfam004351.2e-08830934
Spectrinpfam004352.7e-2310481154
Spectrinpfam004354.9e-1511571263
Spectrinpfam004351.7e-1215711676
Spectrinpfam004351.5e-1416791779
Spectrinpfam004354e-1118771979
Spectrinpfam004351e-2021042208
Spectrinpfam004356.2e-1622112318
Spectrinpfam004350.0004424702577
Spectrinpfam004359e-1425802686
Spectrinpfam004353.8e-0526892802
Spectrinpfam004352.6e-2029343040
WWpfam003972e-1130573086
ZZpfam005691.8e-2433073352
CHsmart000335.1e-2817117
CHsmart000331.3e-25136235
SPECsmart001504.6e-18342446
SPECsmart001503.1e-15451555
SPECsmart001509.8e-10722827
SPECsmart001505.9e-1310511153
SPECsmart001506.1e-1011601262
SPECsmart001501.9e-0812691366
SPECsmart001502.1e-0814681567
SPECsmart001508.1e-1921072207
SPECsmart001502.7e-1122142317
SPECsmart001503.3e-1724732576
SPECsmart001501.1e-0725832685
SPECsmart001501.6e-1826922801
SPECsmart001507.1e-1128082930
SPECsmart001501.1e-1529373039
WWsmart004561.1e-1130573088
efhand_1pfam090687.4e-7430873207
efhand_2pfam090692.6e-6432113302
ZnF_ZZsmart002912.9e-1733073351

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_005149Diseasep.ALA168ASPBecker muscular dystrophy (BMD)
Swiss-ProtVAR_005155Polymorphismp.ALA784GLYN/A
Swiss-ProtVAR_005159Polymorphismp.ALA1278PRON/A
Swiss-ProtVAR_023539Diseasep.ALA171PROBecker muscular dystrophy (BMD)
Swiss-ProtVAR_036356Polymorphismp.ALA2164VALN/A
Swiss-ProtVAR_005172Diseasep.ALA3421VALBecker muscular dystrophy (BMD)
Swiss-ProtVAR_057643Polymorphismp.ALA573VALN/A
Swiss-ProtVAR_057647Polymorphismp.ARG2108CYSN/A
Swiss-ProtVAR_036355Polymorphismp.ARG1470HISN/A
Swiss-ProtVAR_005162Polymorphismp.ARG1745HISN/A
Swiss-ProtVAR_005163Polymorphismp.ARG1844SERN/A
Swiss-ProtVAR_005164Polymorphismp.ARG2155TRPN/A
Swiss-ProtVAR_005165Polymorphismp.ARG2191TRPN/A
Swiss-ProtVAR_005169Polymorphismp.ASN2912ASPN/A
Swiss-ProtVAR_023542Diseasep.ASN1672LYSCardiomyopathy, dilated, X-linked 3B (CMD3B)
Swiss-ProtVAR_023543Polymorphismp.ASN2299THRN/A
Swiss-ProtVAR_023541Diseasep.ASP645GLYDuchenne muscular dystrophy (DMD)
Swiss-ProtVAR_005156Polymorphismp.ASP882GLYN/A
Swiss-ProtVAR_023546Diseasep.ASP3335HISDuchenne muscular dystrophy (DMD)
Swiss-ProtVAR_023538Polymorphismp.ASP165VALN/A
Swiss-ProtVAR_023545Polymorphismp.CYS3313PHEN/A
Swiss-ProtVAR_023547Diseasep.CYS3340TYRDuchenne muscular dystrophy (DMD)
Swiss-ProtVAR_005171Polymorphismp.GLN2937ARGN/A
Swiss-ProtVAR_005151Polymorphismp.GLN365HISN/A
Swiss-ProtVAR_005161Polymorphismp.GLN1469LEUN/A
Swiss-ProtVAR_005148Polymorphismp.GLN133PRON/A
Swiss-ProtVAR_036354Polymorphismp.GLU1219GLNN/A
Swiss-ProtVAR_005168Polymorphismp.GLU2910VALN/A
Swiss-ProtVAR_005170Diseasep.HIS2921ARGBecker muscular dystrophy (BMD)
Swiss-ProtVAR_005147Diseasep.LEU54ARGDuchenne muscular dystrophy (DMD)
Swiss-ProtVAR_005153Polymorphismp.LEU623ILEN/A
Swiss-ProtVAR_036353Polymorphismp.LEU334PHEN/A
Swiss-ProtVAR_005160Polymorphismp.LYS1377ASNN/A
Swiss-ProtVAR_023537Diseasep.LYS18ASNCardiomyopathy, dilated, X-linked 3B (CMD3B)
Swiss-ProtVAR_005167Polymorphismp.LYS2366GLNN/A
Swiss-ProtVAR_005154Diseasep.LYS773GLUDuchenne muscular dystrophy (DMD)
Swiss-ProtVAR_023544Diseasep.PHE3228LEUCardiomyopathy, dilated, X-linked 3B (CMD3B)
Swiss-ProtVAR_057646Polymorphismp.PHE1388VALN/A
Swiss-ProtVAR_062110Polymorphismp.SER666LEUN/A
Swiss-ProtVAR_023540Diseasep.THR279ALACardiomyopathy, dilated, X-linked 3B (CMD3B)
Swiss-ProtVAR_005158Polymorphismp.THR1245ILEN/A
Swiss-ProtVAR_057645Polymorphismp.THR1136SERN/A
Swiss-ProtVAR_057642Polymorphismp.THR409SERN/A
Swiss-ProtVAR_057644Polymorphismp.THR715SERN/A
Swiss-ProtVAR_065764Polymorphismp.TRP118ARGN/A
Swiss-ProtVAR_005150Diseasep.TYR231ASNBecker muscular dystrophy (BMD)
Swiss-ProtVAR_005157Polymorphismp.VAL1197PHEN/A



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