No paralogue variants have been mapped to residue 2752 for RYR1.
RYR1 | KAEKKATVDAEGNFDPRPVETLNVIIPEKL>D<SFINKFAEYTHEKWAFDKIQNNWSYGENID | 2782 |
RYR2 | MMEKQSSMDSEGNFNPQPVDTSNITIPEKL>E<YFINKYAEHSHDKWSMDKLANGWIYGEIYS | 2748 |
RYR3 | TLEKQISVDADGNFDPKPINTMNFSLPEKL>E<YIVTKYAEHSHDKWACDKSQSGWKYGISLD | 2645 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2752Y | c.8254G>T | Putative Benign | SIFT: Polyphen: |