No paralogue variants have been mapped to residue 1132 for RYR1.
RYR1 | GWARPELRPDVELGADELAYVFNGHRGQRW>H<LGSEPFGRPWQPGDVVGCMIDLTENTIIFT | 1162 |
RYR2 | GWSRPGCQPDQELGSDERAFAFDGFKAQRW>H<QGNEHYGRSWQAGDVVGCMVDMNEHTMMFT | 1176 |
RYR3 | GWARPGCRPDVELGADDQAFVFEGNRGQRW>H<QGSGYFGRTWQPGDVVGCMINLDDASMIFT | 1162 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H1132Q | c.3396C>G | Putative Benign | SIFT: deleterious Polyphen: probably damaging |