No paralogue variants have been mapped to residue 186 for RYR2.
RYR2 | EACWWTIHPASKQRSEGEKVRVGDDLILVS>V<SSERYLHLSYGNGSLHVDAAFQQTLWSVAP | 216 |
RYR1 | EACWWTMHPASKQRSEGEKVRVGDDIILVS>V<SSERYLHLSTASGELQVDASFMQTLWNMNP | 203 |
RYR3 | EACWWTIHPASKQRSEGEKVRIGDDLILVS>V<SSERYLHLSVSNGNIQVDASFMQTLWNVHP | 206 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V186M | c.556G>A | Inherited Arrhythmia | CPVT | rs201211033 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | CPVT | Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. Heart Rhythm. 2006 3(7):800-5. 16818210 | ||
Inherited Arrhythmia | CPVT | Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations. Structure. 2009 17(11):1505-14. 19913485 | |||
Inherited Arrhythmia | CPVT | The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol. 2009 54(22):2065-74. 19926015 | |||
Inherited Arrhythmia | CPVT | Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet. 2001 10(3):189-94. 11159936 | |||
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 | |||
Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 |