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Results for the Protein: NP_001008844
58530842
DSP

desmoplakin isoform II [Homo sapiens]

Known Diseases associated with this Protein:
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
  EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC
  KERATOSIS PALMOPLANTARIS STRIATA II
  SKIN FRAGILITY-WOOLLY HAIR SYNDROME
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Default View:

SPEC - cd00176
Plectin - pfam00681
PLEC - smart00250




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SPECcd001761.6e-13271508
Plectinpfam006815.6e-1714471491
Plectinpfam006816e-1815231567
Plectinpfam006812.1e-2016901734
Plectinpfam006816.4e-2017661810
Plectinpfam006811.3e-1018591901
Plectinpfam006816.8e-2220492093
Plectinpfam006811.1e-1521252169
PLECsmart002505.5e-1114471484
PLECsmart002506.4e-1114851522
PLECsmart002501.7e-0815231560
PLECsmart002501.2e-0916521689
PLECsmart002501.1e-1016901727
PLECsmart002501.1e-0817281765
PLECsmart002504.4e-0817661803
PLECsmart002502.3e-0918571894
PLECsmart002503.8e-0519081945
PLECsmart002507.5e-0820112048
PLECsmart002501.3e-1420492086
PLECsmart002501.2e-1121252162
PLECsmart002501.2e-0521632200

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM125647.0006 Diseasep.ARG1767CYSSKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM125647.0013 Diseasep.ARG1767HISSKIN FRAGILITY-WOOLLY HAIR SYNDROME
OMIM125647.0012 Diseasep.ARG2235HISARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
OMIM125647.0008 Diseasep.ARG1335TEREPIDERMOLYSIS 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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