No paralogue variants have been mapped to residue 4010 for RYR2.
RYR2 | VMLLSMLEGNVVNGTIGKQMVDMLVESSNN>V<EMILKFFDMFLKLKDLTSSDTFKEYDPDGK | 4040 |
RYR1 | VMLLSLLEGNVVNGMIARQMVDMLVESSSN>V<EMILKFFDMFLKLKDIVGSEAFQDYVTDPR | 4084 |
RYR3 | VMLLSLLEGNVVNGTIGKQMVDTLVESSTN>V<EMILKFFDMFLKLKDLTSSDTFKEYDPDGK | 3936 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4010M | c.12028G>A | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||
Reports | Putative Benign | 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 |