No paralogue variants have been mapped to residue 2412 for RYR1.
RYR1 | EAIRISEDPARDGPGIRRDRRREHFGEEPP>E<ENRVHLGHAIMSFYAALIDLLGRCAPEMHL | 2442 |
RYR2 | EAIKIAEDPSRDGPSPNS-GSSKTLDTEEE>E<DDTIHMGNAIMTFYSALIDLLGRCAPEMHL | 2408 |
RYR3 | GAIKISENPALDLPSQGY-KREVSTGDDEE>E<EEIVHMGNAIMSFYSALIDLLGRCAPEMHL | 2305 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2412D | c.7236A>T | Unknown | SIFT: Polyphen: benign |