No paralogue variants have been mapped to residue 1130 for RYR1.
RYR1 | RVGWARPELRPDVELGADELAYVFNGHRGQ>R<WHLGSEPFGRPWQPGDVVGCMIDLTENTII | 1160 |
RYR2 | RVGWSRPGCQPDQELGSDERAFAFDGFKAQ>R<WHQGNEHYGRSWQAGDVVGCMVDMNEHTMM | 1174 |
RYR3 | RVGWARPGCRPDVELGADDQAFVFEGNRGQ>R<WHQGSGYFGRTWQPGDVVGCMINLDDASMI | 1160 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1130H | c.3389G>A | Putative Benign | rs371498385 | SIFT: deleterious Polyphen: probably damaging | |
p.R1130C | c.3388C>T | Putative Benign | SIFT: Polyphen: |