No paralogue variants have been mapped to residue 4143 for RYR2.
RYR2 | TRLQTFLELAESVLNYFQPFLGRIEIMGSA>K<RIERVYFEISESSRTQWEKPQVKESKRQFI | 4173 |
RYR1 | PRLHNFLELAESILEYFRPYLGRIEIMGAS>R<RIERIYFEISETNRAQWEMPQVKESKRQFI | 4217 |
RYR3 | SRLKCLLDPAESVLNYFEPYLGRIEIMGGA>K<KIERVYFEISESSRTQWEKPQVKESKRQFI | 4069 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K4143Q | c.12427A>C | Putative Benign | SIFT: Polyphen: | ||
p.K4143E | c.12427A>G | Putative Benign | SIFT: Polyphen: |