No paralogue variants have been mapped to residue 4307 for RYR2.
RYR2 | KDMVTAFFSSYWSIFMTLLHFVASVFRGFF>R<IICSLLLGGSLVEGAKKIKVAELLANMPDP | 4337 |
RYR1 | REAATAVAALLWAAVTRAGAAGAGAAAGAL>G<LLWGSLFGGGLVEGAKKVTVTELLAGMPDP | 4386 |
RYR3 | KELVKVLFSFFWMLFVGLFQLLFTILGGIF>Q<ILWSTVFGGGLVEGAKNIRVTKILGDMPDP | 4238 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4307C | c.12919C>T | Benign | rs200092869 | SIFT: tolerated 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 | |||
p.R4307H | c.12920G>A | Putative Benign | SIFT: Polyphen: |