No paralogue variants have been mapped to residue 1118 for RYR1.
RYR1 | YFEFEAVTTGEMRVGWARPELRPDVELGAD>E<LAYVFNGHRGQRWHLGSEPFGRPWQPGDVV | 1148 |
RYR2 | YFEFETVTAGDMRVGWSRPGCQPDQELGSD>E<RAFAFDGFKAQRWHQGNEHYGRSWQAGDVV | 1162 |
RYR3 | YFEFEVVTGGDMRVGWARPGCRPDVELGAD>D<QAFVFEGNRGQRWHQGSGYFGRTWQPGDVV | 1148 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1118K | c.3352G>A | Putative Benign | SIFT: deleterious Polyphen: benign |