No paralogue variants have been mapped to residue 2793 for RYR1.
RYR1 | HEKWAFDKIQNNWSYGENIDEELKTHPMLR>P<YKTFSEKDKEIYRWPIKESLKAMIAWEWTI | 2823 |
RYR2 | HDKWSMDKLANGWIYGEIYSDSSKVQPLMK>P<YKLLSEKEKEIYRWPIKESLKTMLAWGWRI | 2789 |
RYR3 | HDKWACDKSQSGWKYGISLDENVKTHPLIR>P<FKTLTEKEKEIYRWPARESLKTMLAVGWTV | 2686 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P2793S | c.8377C>T | Putative Benign | rs369040621 | SIFT: deleterious Polyphen: benign | |
p.P2793L | c.8378C>T | Putative Benign | SIFT: Polyphen: |