No paralogue variants have been mapped to residue 4285 for RYR2.
RYR2 | LMRMLSLKSLKKQMKKVKKMTVKDMVTAFF>S<SYWSIFMTLLHFVASVFRGFFRIICSLLLG | 4315 |
RYR1 | ALRGLSYRSLRRRVRRLRRLTAREAATAVA>A<LLWAAVTRAGAAGAGAAAGALGLLWGSLFG | 4364 |
RYR3 | FLKRATLKNLRKQYRNVKKMTAKELVKVLF>S<FFWMLFVGLFQLLFTILGGIFQILWSTVFG | 4216 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S4285L | c.12854C>T | Putative Benign | SIFT: Polyphen: |