No paralogue variants have been mapped to residue 4293 for RYR1.
RYR1 | EGAGAAEAGAEGAEEGAAGLEGTAATAAAG>A<TARVVAAAGRALRGLSYRSLRRRVRRLRRL | 4323 |
RYR2 | EESEK-----ERPEEQGPRMAFFSILTVRS>A<LFALRYNILTLMRMLSLKSLKKQMKKVKKM | 4274 |
RYR3 | EEDEDSSYVLEIAGEEEEDGSLEPASAFAM>A<CASVKRNVTDFLKRATLKNLRKQYRNVKKM | 4175 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4293E | c.12878C>A | Putative Benign | SIFT: Polyphen: benign | ||
p.A4293V | c.12878C>T | Putative Benign | SIFT: Polyphen: benign |