No paralogue variants have been mapped to residue 1169 for RYR1.
RYR1 | GRPWQPGDVVGCMIDLTENTIIFTLNGEVL>M<SDSGSETAFREIEIGDGFLPVCSLGPGQVG | 1199 |
RYR2 | GRSWQAGDVVGCMVDMNEHTMMFTLNGEIL>L<DDSGSELAFKDFDVGDGFIPVCSLGVAQVG | 1213 |
RYR3 | GRTWQPGDVVGCMINLDDASMIFTLNGELL>I<TNKGSELAFADYEIENGFVPICCLGLSQIG | 1199 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M1169L | c.3505A>C | Putative Benign | rs139069946 | SIFT: Polyphen: benign | |
p.M1169I | c.3507G>A | Putative Benign | SIFT: Polyphen: |