No paralogue variants have been mapped to residue 1116 for RYR1.
RYR1 | RWYFEFEAVTTGEMRVGWARPELRPDVELG>A<DELAYVFNGHRGQRWHLGSEPFGRPWQPGD | 1146 |
RYR2 | RWYFEFETVTAGDMRVGWSRPGCQPDQELG>S<DERAFAFDGFKAQRWHQGNEHYGRSWQAGD | 1160 |
RYR3 | KWYFEFEVVTGGDMRVGWARPGCRPDVELG>A<DDQAFVFEGNRGQRWHQGSGYFGRTWQPGD | 1146 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1116T | c.3346G>A | Putative Benign | SIFT: Polyphen: |