No paralogue variants have been mapped to residue 1100 for RYR2.
RYR2 | DHAARAEVCSGTGERFRIFRAEKTYAVKAG>R<WYFEFETVTAGDMRVGWSRPGCQPDQELGS | 1130 |
RYR1 | EP-SQVEN-QSRCDRVRIFRAEKSYTVQSG>R<WYFEFEAVTTGEMRVGWARPELRPDVELGA | 1116 |
RYR3 | EL-ADSAVEKVSIDKIRFFRVERSYAVRSG>K<WYFEFEVVTGGDMRVGWARPGCRPDVELGA | 1116 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1100Q | c.3299G>A | Putative Benign | SIFT: Polyphen: |