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Results for the Protein: P15924
115502381
DSP

DESP_HUMAN RecName: Full=Desmoplakin; Short=DP; AltName: Full=250/210 kDa paraneoplastic pemphigus antigen

Known Diseases associated with this Protein:
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 (ARVD8)
  CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
  EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
  KERATOSIS PALMOPLANTARIS STRIATA II
  SKIN FRAGILITY-WOOLLY HAIR SYNDROME
  SKIN FRAGILITY-WOOLLY HAIR SYNDROME (SFWHS)
17
8
11
3
11
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Default View:

SPEC - cd00176
Plectin - pfam00681
PLEC - smart00250


Swiss-Prot Protein: P15924
Identical to: NP_004406
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SPECcd001761.6e-13271508
Plectinpfam006815.6e-1720462090
Plectinpfam006816e-1821222166
Plectinpfam006812.1e-2022892333
Plectinpfam006816.4e-2023652409
Plectinpfam006811.3e-1024582500
Plectinpfam006816.8e-2226482692
Plectinpfam006811.1e-1527242768
PLECsmart002505.5e-1120462083
PLECsmart002506.4e-1120842121
PLECsmart002501.7e-0821222159
PLECsmart002501.2e-0922512288
PLECsmart002501.1e-1022892326
PLECsmart002501.1e-0823272364
PLECsmart002504.4e-0823652402
PLECsmart002502.3e-0924562493
PLECsmart002503.8e-0525072544
PLECsmart002507.5e-0826102647
PLECsmart002501.3e-1426482685
PLECsmart002501.2e-1127242761
PLECsmart002501.2e-0527622799

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065694Polymorphismp.ALA1505VALN/A
Swiss-ProtVAR_065696Polymorphismp.ARG1537CYSN/A
Swiss-ProtVAR_015570Diseasep.ARG2366CYSSkin fragility-woolly hair syndrome (SFWHS)
dbSNPrs6929069 Polymorphismp.ARG1738GLNN/A
Swiss-ProtVAR_023816Diseasep.ARG1775ILEArrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)
Swiss-ProtVAR_023814Diseasep.ARG1255LYSArrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)
dbSNPrs28763966 Polymorphismp.ASN1526LYSN/A
Swiss-ProtVAR_015569Diseasep.ASN287LYSSkin fragility-woolly hair syndrome (SFWHS)
Swiss-ProtVAR_065697Polymorphismp.GLU1833VALN/A
Swiss-ProtVAR_018158Polymorphismp.GLY2375ARGN/A
Swiss-ProtVAR_033862Polymorphismp.ILE305PHEN/A
Swiss-ProtVAR_065693Diseasep.ILE445VALArrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)
Swiss-ProtVAR_015402Diseasep.SER299ARGArrhythmogenic right ventricular dysplasia, familial, 8 (ARVD8)
dbSNPrs2076299 Polymorphismp.TYR1512CYSN/A
OMIM125647.0006 Diseasep.ARG2366CYSSKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM125647.0013 Diseasep.ARG2366HISSKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM125647.0012 Diseasep.ARG2834HISARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
OMIM125647.0010 Diseasep.ARG1267TERCARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
OMIM125647.0008 Diseasep.ARG1934TEREPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
OMIM125647.0004 Diseasep.ASN287LYSSKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM125647.0005 Diseasep.CYS809TERSKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM125647.0001 Diseasep.GLN331TERKERATOSIS PALMOPLANTARIS STRIATA II
OMIM125647.0007 Diseasep.GLN664TERSKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM125647.0003 Diseasep.SER299ARGARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
OMIM125647.0011 Diseasep.VAL30METARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8



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