No paralogue variants have been mapped to residue 4104 for RYR2.
RYR2 | ENETLDYEEFVKRFHEPAKDIGFNVAVLLT>N<LSEHMPNDTRLQTFLELAESVLNYFQPFLG | 4134 |
RYR1 | ENEMINCEEFANRFQEPARDIGFNVAVLLT>N<LSEHVPHDPRLHNFLELAESILEYFRPYLG | 4178 |
RYR3 | ENDMFNYVDFVDRFHEPAKDIGFNVAVLLT>N<LSEHMPNDSRLKCLLDPAESVLNYFEPYLG | 4030 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N4104I | c.12311A>T | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet. 2005 42(11):863-70. 16272262 | ||
Inherited Arrhythmia | CPVT | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 | |||
p.N4104K | c.12312C>G | Inherited Arrhythmia | CPVT | rs121918599 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | CPVT | Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001 103(2):196-200. 11208676 | ||
Inherited Arrhythmia | CPVT | Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 106(1):69-74. 12093772 | |||
Inherited Arrhythmia | CPVT | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 |