No paralogue variants have been mapped to residue 1431 for RYR2.
RYR2 | SARLTEDVLADDRDDYDFLMQT-STYYYSV>R<IFPGQEPANVWVGWITSDFHQYDTGFDLDR | 1461 |
RYR1 | LPRLPHDVVPADNRDDPEIILNTTTYYYSV>R<VFAGQEPSCVWAGWVTPDYHQHDMSFDLSK | 1467 |
RYR3 | SPCLDSEAFQKRKQMQEILSHTTTQCYYAI>R<IFAGQDPSCVWVGWVTPDYHLYSEKFDLNK | 1363 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1431K | c.4292G>A | Putative Benign | rs267598435 | SIFT: deleterious Polyphen: probably damaging |