No paralogue variants have been mapped to residue 4276 for RYR2.
RYR2 | FALRYNILTLMRMLSLKSLKKQMKKVKKMT>V<KDMVTAFFSSYWSIFMTLLHFVASVFRGFF | 4306 |
RYR1 | ARVVAAAGRALRGLSYRSLRRRVRRLRRLT>A<REAATAVAALLWAAVTRAGAAGAGAAAGAL | 4355 |
RYR3 | ASVKRNVTDFLKRATLKNLRKQYRNVKKMT>A<KELVKVLFSFFWMLFVGLFQLLFTILGGIF | 4207 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4276M | c.12826G>A | Putative Benign | rs368599791 | SIFT: tolerated Polyphen: benign |