No paralogue variants have been mapped to residue 1412 for RYR1.
RYR1 | KNKKRGFLFKAKKVAMMTQPPATPTLPRLP>H<DVVPADNRDDPEIILNTTTYYYSVRVFAGQ | 1442 |
RYR2 | KP-SR--LKQRFLLRRTKPDYSTSHSARLT>E<DVLADDRDDYDFLMQT-STYYYSVRIFPGQ | 1436 |
RYR3 | -------------------------SPCLD>S<EAFQKRKQMQEILSHTTTQCYYAIRIFAGQ | 1338 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1412Q | c.4236C>G | Putative Benign | rs146206507 | SIFT: Polyphen: benign |