No paralogue variants have been mapped to residue 1172 for RYR2.
RYR2 | AQRWHQGNEHYGRSWQAGDVVGCMVDMNEH>T<MMFTLNGEILLDDSGSELAFKDFDVGDGFI | 1202 |
RYR1 | GQRWHLGSEPFGRPWQPGDVVGCMIDLTEN>T<IIFTLNGEVLMSDSGSETAFREIEIGDGFL | 1188 |
RYR3 | GQRWHQGSGYFGRTWQPGDVVGCMINLDDA>S<MIFTLNGELLITNKGSELAFADYEIENGFV | 1188 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1172S | c.3514A>T | Putative Benign | SIFT: Polyphen: | ||
p.T1172I | c.3515C>T | Putative Benign | SIFT: Polyphen: |