No paralogue variants have been mapped to residue 1413 for RYR1.
RYR1 | NKKRGFLFKAKKVAMMTQPPATPTLPRLPH>D<VVPADNRDDPEIILNTTTYYYSVRVFAGQE | 1443 |
RYR2 | P-SR--LKQRFLLRRTKPDYSTSHSARLTE>D<VLADDRDDYDFLMQT-STYYYSVRIFPGQE | 1437 |
RYR3 | ------------------------SPCLDS>E<AFQKRKQMQEILSHTTTQCYYAIRIFAGQD | 1339 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1413N | c.4237G>A | Putative Benign | rs139142846 | SIFT: Polyphen: possibly damaging |