No paralogue variants have been mapped to residue 4617 for RYR1.
RYR1 | PGEDDMEGSAAGDVSGAGSGGSSGW-GLGA>G<EEAEGDEDENMVYYFLEESTGYMEPALRCL | 4647 |
RYR2 | VVEGKE------LPTRSSSENAK-VTSLDS>-<----SSHRIIAVHYVLEESSGYMEPTLRIL | 4575 |
RYR3 | LEEETE------DVANLWN-------SFND>-<----EEEEEAMVFFVLQESTGYMAPTLRAL | 4480 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4617R | c.13849G>A | Putative Benign | rs202226983 | SIFT: Polyphen: |