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Results for the Protein: Q02487
461968

DSC2_HUMAN RecName: Full=Desmocollin-2; AltName: Full=Cadherin family member 2; AltName: Full=Desmocollin-3; AltName: Full=Desmosomal glycoprotein II; AltName: Full=Desmosomal glycoprotein III; Flags: Precursor

Known Diseases associated with this Protein:
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 (ARVD11)
4
6
0
2
8
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Default View:

Cadherin_pro - pfam08758
Cadherin - pfam00028
CA - smart00112
CA_like - cd00031
Cadherin_C - pfam01049


Swiss-Prot Protein: Q02487
Identical to: NP_077740
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CA_likecd000315.2e-59247464
CA_likecd000311.6e-33475670
Cadherinpfam000285.9e-20140234
Cadherinpfam000289.9e-25248346
Cadherinpfam000287.4e-26360463
Cadherinpfam000282e-21476568
Cadherin_Cpfam010495.2e-24777901
Cadherin_propfam087581.9e-2131113
CAsmart001121.8e-13159241
CAsmart001122.1e-23268353
CAsmart001121.3e-13379470
CAsmart001123.6e-18496575

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065691Polymorphismp.ALA596VALN/A
Swiss-ProtVAR_065687Diseasep.ARG203CYSArrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)
dbSNPrs61731921 Polymorphismp.ARG798GLNN/A
Swiss-ProtVAR_029480Polymorphismp.ASN11SERN/A
Swiss-ProtVAR_065692Polymorphismp.GLN638HISN/A
Swiss-ProtVAR_065688Diseasep.ILE231THRArrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)
dbSNPrs1893963 Polymorphismp.ILE776VALN/A
Swiss-ProtVAR_065690Diseasep.THR340ALAArrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)
Swiss-ProtVAR_062391Polymorphismp.THR358ILEN/A
Swiss-ProtVAR_065689Diseasep.THR275METArrhythmogenic right ventricular dysplasia, familial, 11 (ARVD11)



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