No paralogue variants have been mapped to residue 2753 for RYR1.
RYR1 | AEKKATVDAEGNFDPRPVETLNVIIPEKLD>S<FINKFAEYTHEKWAFDKIQNNWSYGENIDE | 2783 |
RYR2 | MEKQSSMDSEGNFNPQPVDTSNITIPEKLE>Y<FINKYAEHSHDKWSMDKLANGWIYGEIYSD | 2749 |
RYR3 | LEKQISVDADGNFDPKPINTMNFSLPEKLE>Y<IVTKYAEHSHDKWACDKSQSGWKYGISLDE | 2646 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2753P | c.8257T>C | Putative Benign | SIFT: Polyphen: |