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Results for the Protein: Q99959
296452867

PKP2_HUMAN RecName: Full=Plakophilin-2

Known Diseases associated with this Protein:
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 (ARVD9)
10
18
2
1
25
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Default View:

ARM - cd00020
Arm - pfam00514
ARM - smart00185


Swiss-Prot Protein: Q99959
Identical to: NP_004563
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ARMcd000205.7e-24345467
ARMcd000206.7e-20675804
Armpfam005145.7e-07384424
Armpfam005140.00053426467
ARMsmart001851.4e-08384424
ARMsmart001850.00028570616
ARMsmart001850.00019718758

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065710Polymorphismp.ALA372PRON/A
Swiss-ProtVAR_065707Polymorphismp.ALA195VALN/A
Swiss-ProtVAR_070037Polymorphismp.ARG490TRPN/A
Swiss-ProtVAR_070276Polymorphismp.ASN76SERN/A
Swiss-ProtVAR_065701Polymorphismp.ASP26ASNN/A
Swiss-ProtVAR_021151Diseasep.CYS796ARGArrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
Swiss-ProtVAR_065703Polymorphismp.GLN62LYSN/A
Swiss-ProtVAR_065702Polymorphismp.GLU58ASPN/A
Swiss-ProtVAR_065705Diseasep.GLU137LYSArrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
Swiss-ProtVAR_065712Polymorphismp.GLY489ARGN/A
Swiss-ProtVAR_065717Polymorphismp.GLY673VALN/A
Swiss-ProtVAR_065714Polymorphismp.ILE531SERN/A
Swiss-ProtVAR_065718Diseasep.LEU787PHEArrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
dbSNPrs1046116 Polymorphismp.LEU366PRON/A
Swiss-ProtVAR_070277Polymorphismp.LYS112ASNN/A
Swiss-ProtVAR_021150Diseasep.LYS654GLNArrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
Swiss-ProtVAR_065711Diseasep.PHE424SERArrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
Swiss-ProtVAR_065708Polymorphismp.PRO276SERN/A
Swiss-ProtVAR_065706Diseasep.SER169GLYArrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
Swiss-ProtVAR_065704Polymorphismp.SER70ILEN/A
Swiss-ProtVAR_021148Polymorphismp.SER140PHEN/A
Swiss-ProtVAR_021149Diseasep.SER615PHEArrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
Swiss-ProtVAR_065709Polymorphismp.THR338ALAN/A
Swiss-ProtVAR_065713Polymorphismp.THR526METN/A
Swiss-ProtVAR_065716Diseasep.TYR631CYSArrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
Swiss-ProtVAR_065715Polymorphismp.VAL587ILEN/A
OMIM602861.0002 Diseasep.ARG735TERARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
OMIM602861.0001 Diseasep.ARG79TERARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9



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