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Results for the Protein: Q92736
308153558

RYR2_HUMAN RecName: Full=Ryanodine receptor 2; Short=RYR-2; Short=RyR2; Short=hRYR-2; AltName: Full=Cardiac muscle ryanodine receptor; AltName: Full=Cardiac muscle ryanodine receptor-calcium release channel; AltName: Full=Type 2 ryanodine receptor

Known Diseases associated with this Protein:
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
  VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1
  VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPA
49
4
10
2
41
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Default View:

Ins145_P3_rec - pfam08709
MIR - pfam02815
MIR - smart00472
RYDR_ITPR - pfam01365
SPRY - pfam00622
SPRY - smart00449
RyR - pfam02026
RIH_assoc - pfam08454
EFh - cd00051
RR_TM4-6 - pfam06459
Ion_trans - pfam00520


Swiss-Prot Protein: Q92736
Identical to: NP_001026
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EFhcd000513.7e-0540274088
MIRpfam028151.5e-75226406
RYDR_ITPRpfam013651.4e-94451655
SPRYpfam006228.4e-39670807
RyRpfam020261.1e-56861955
RyRpfam020268.9e-539751069
SPRYpfam006228e-4610981220
SPRYpfam006223.3e-3314231560
RYDR_ITPRpfam013652e-8321212332
RyRpfam020263.7e-5727002794
RyRpfam020261.5e-4928202908
Ion_transpfam005207.4e-0646904866
Ins145_P3_recpfam087091.6e-1129219
MIRsmart004723.4e-30286376
SPRYsmart004496.8e-40670807
SPRYsmart004496.7e-3910981220
SPRYsmart004499.2e-2714231560
RIH_assocpfam084549.8e-7238263959
RR_TM4-6pfam064597.8e-13743334599

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_044109Diseasep.ALA4860GLYVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044093Diseasep.ALA2387PROVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044105Diseasep.ALA4607PROVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044095Diseasep.ALA2403THRVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044104Diseasep.ALA4510THRVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_011402Diseasep.ARG4497CYSVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044087Diseasep.ARG176GLNVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_023696Diseasep.ARG4959GLNVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044088Diseasep.ARG414LEUVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_011399Diseasep.ARG2474SERVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044090Diseasep.ARG420TRPVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044112Diseasep.ASN4895ASPVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_011398Diseasep.ASN2386ILEVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_011400Diseasep.ASN4104LYSVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044099Diseasep.ASN4097SERVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_011590Polymorphismp.GLN2958ARGN/A
Swiss-ProtVAR_011401Diseasep.GLN4201ARGVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044092Diseasep.GLU2311ASPVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044100Diseasep.GLU4146LYSVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044113Diseasep.GLU4950LYSVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044106Diseasep.GLY4671ARGVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
dbSNPrs41315858 Polymorphismp.GLY1885GLUN/A
Swiss-ProtVAR_022078Polymorphismp.GLY1886SERN/A
Swiss-ProtVAR_044098Diseasep.GLY3946SERVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044110Diseasep.ILE4867METVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044089Diseasep.ILE419PHEVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044108Diseasep.ILE4848VALVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044097Diseasep.LEU3778PHEVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_011395Diseasep.LEU433PROVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044103Diseasep.MET4504ILEVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044102Diseasep.PHE4499CYSVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_023695Diseasep.PRO4902LEUVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044086Diseasep.PRO164SERVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_011397Diseasep.PRO2328SERVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_011396Diseasep.SER2246LEUVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044096Diseasep.THR2504METVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044101Diseasep.THR4158PROVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044094Diseasep.TYR2392CYSVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044111Diseasep.VAL4880ALAVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_023694Diseasep.VAL2306ILEVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
Swiss-ProtVAR_044107Diseasep.VAL4771ILEVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
dbSNPrs16835270 Polymorphismp.VAL507ILEN/A
Swiss-ProtVAR_011403Diseasep.VAL4653PHEVentricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopa
OMIM180902.0010 Diseasep.ALA4860GLYVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1
OMIM180902.0004 Diseasep.ARG4497CYSVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1
OMIM180902.0002 Diseasep.ARG2474SERVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1
OMIM180902.0005 Diseasep.ASN2386ILEARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
OMIM180902.0003 Diseasep.ASN4104LYSVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1
OMIM180902.0009 Diseasep.GLN4201ARGVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1
OMIM180902.0006 Diseasep.LEU433PROARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2
OMIM180902.0007 Diseasep.PRO2328SERVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1
OMIM180902.0001 Diseasep.SER2246LEUVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1
OMIM180902.0008 Diseasep.VAL4653PHEVENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1



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