No paralogue variants have been mapped to residue 4318 for RYR1.
RYR1 | TAAAGATARVVAAAGRALRGLSYRSLRRRV>R<RLRRLTAREAATAVAALLWAAVTRAGAAGA | 4348 |
RYR2 | LTVRSALFALRYNILTLMRMLSLKSLKKQM>K<KVKKMTVKDMVTAFFSSYWSIFMTLLHFVA | 4299 |
RYR3 | SAFAMACASVKRNVTDFLKRATLKNLRKQY>R<NVKKMTAKELVKVLFSFFWMLFVGLFQLLF | 4200 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4318W | c.12952C>T | Unknown | SIFT: Polyphen: |