No paralogue variants have been mapped to residue 1086 for RYR1.
RYR1 | EP-SQVEN-QSRCDRVRIFRAEKSYTVQSG>R<WYFEFEAVTTGEMRVGWARPELRPDVELGA | 1116 |
RYR2 | DHAARAEVCSGTGERFRIFRAEKTYAVKAG>R<WYFEFETVTAGDMRVGWSRPGCQPDQELGS | 1130 |
RYR3 | EL-ADSAVEKVSIDKIRFFRVERSYAVRSG>K<WYFEFEVVTGGDMRVGWARPGCRPDVELGA | 1116 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1086C | c.3256C>T | Putative Benign | rs373618219 | SIFT: deleterious Polyphen: probably damaging | |
p.R1086H | c.3257G>A | Putative Benign | SIFT: Polyphen: |