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Results for the Protein: P14923
205371866
JUP

PLAK_HUMAN RecName: Full=Junction plakoglobin; AltName: Full=Catenin gamma; AltName: Full=Desmoplakin III; AltName: Full=Desmoplakin-3

Known Diseases associated with this Protein:
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 (ARVD12)
1
3
0
2
2
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Default View:

ARM - cd00020
ARM - smart00185
Arm - pfam00514


Swiss-Prot Protein: P14923
Identical to: NP_068831, NP_002221
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ARMcd000204e-23304420
ARMcd000205.9e-39474613
Armpfam005149.8e-08215255
Armpfam005144.4e-11341381
Armpfam005147e-05422464
Armpfam005147.9e-09573613
ARMsmart001853.3e-07215255
ARMsmart001856.7e-11341381
ARMsmart001852.4e-16511572
ARMsmart001856.3e-07573613

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs41283425 Polymorphismp.ARG142HISN/A
dbSNPrs1126821 Polymorphismp.MET697LEUN/A
Swiss-ProtVAR_065698Diseasep.THR19ILEArrhythmogenic right ventricular dysplasia, familial, 12 (ARVD12)
Swiss-ProtVAR_065700Polymorphismp.VAL648ILEN/A



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