No paralogue variants have been mapped to residue 507 for RYR2.
RYR2 | NRLRALKNRQNLFQEEGMINLVLECIDRLH>V<YSSAAHFADVAGREAGESWKSILNSLYELL | 537 |
RYR1 | SKLRSLRNRQSLFQEEGMLSMVLNCIDRLN>V<YTTAAHFAEFAGEEAAESWKEIVNLLYELL | 525 |
RYR3 | NKLRSLKNRQNLFKEEGMLALVLNCIDRLN>V<YNSVAHFAGIAREESGMAWKEILNLLYKLL | 524 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V507I | c.1519G>A | Benign | rs16835270 | SIFT: tolerated Polyphen: possibly damaging | |
Reports | 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 |