No paralogue variants have been mapped to residue 1414 for RYR2.
RYR2 | LKQRFLLRRTKPDYSTSHSARLTEDVLADD>R<DDYDFLMQT-STYYYSVRIFPGQEPANVWV | 1443 |
RYR1 | LFKAKKVAMMTQPPATPTLPRLPHDVVPAD>N<RDDPEIILNTTTYYYSVRVFAGQEPSCVWA | 1449 |
RYR3 | ------------------SPCLDSEAFQKR>K<QMQEILSHTTTQCYYAIRIFAGQDPSCVWV | 1345 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1414Q | c.4241G>A | Putative Benign | SIFT: Polyphen: |