No paralogue variants have been mapped to residue 4289 for RYR1.
RYR1 | TDEDEGAGAAEAGAEGAEEGAAGLEGTAAT>A<AAGATARVVAAAGRALRGLSYRSLRRRVRR | 4319 |
RYR2 | SANKEESEK-----ERPEEQGPRMAFFSIL>T<VRSALFALRYNILTLMRMLSLKSLKKQMKK | 4270 |
RYR3 | PEEEEEDEDSSYVLEIAGEEEEDGSLEPAS>A<FAMACASVKRNVTDFLKRATLKNLRKQYRN | 4171 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4289E | c.12866C>A | Unknown | SIFT: Polyphen: benign | ||
p.A4289V | c.12866C>T | Unknown | SIFT: Polyphen: benign |