No paralogue variants have been mapped to residue 1144 for RYR2.
RYR2 | RVGWSRPGCQPDQELGSDERAFAFDGFKAQ>R<WHQGNEHYGRSWQAGDVVGCMVDMNEHTMM | 1174 |
RYR1 | RVGWARPELRPDVELGADELAYVFNGHRGQ>R<WHLGSEPFGRPWQPGDVVGCMIDLTENTII | 1160 |
RYR3 | RVGWARPGCRPDVELGADDQAFVFEGNRGQ>R<WHQGSGYFGRTWQPGDVVGCMINLDDASMI | 1160 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1144Q | c.3431G>A | Putative Benign | rs193125030 | SIFT: deleterious Polyphen: probably damaging |