No paralogue variants have been mapped to residue 4290 for RYR1.
RYR1 | DEDEGAGAAEAGAEGAEEGAAGLEGTAATA>A<AGATARVVAAAGRALRGLSYRSLRRRVRRL | 4320 |
RYR2 | ANKEESEK-----ERPEEQGPRMAFFSILT>V<RSALFALRYNILTLMRMLSLKSLKKQMKKV | 4271 |
RYR3 | EEEEEDEDSSYVLEIAGEEEEDGSLEPASA>F<AMACASVKRNVTDFLKRATLKNLRKQYRNV | 4172 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4290V | c.12869C>T | Unknown | SIFT: Polyphen: benign |