No paralogue variants have been mapped to residue 4263 for RYR2.
RYR2 | MAFFSILTVRSALFALRYNILTLMRMLSLK>S<LKKQMKKVKKMTVKDMVTAFFSSYWSIFMT | 4293 |
RYR1 | LEGTAATAAAGATARVVAAAGRALRGLSYR>S<LRRRVRRLRRLTAREAATAVAALLWAAVTR | 4342 |
RYR3 | GSLEPASAFAMACASVKRNVTDFLKRATLK>N<LRKQYRNVKKMTAKELVKVLFSFFWMLFVG | 4194 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S4263N | c.12788G>A | Putative Benign | SIFT: tolerated Polyphen: benign |