No paralogue variants have been mapped to residue 2375 for RYR2.
RYR2 | AMEEAIKIAEDPSRDGPSPNS-GSSKTLDT>E<EEEDDTIHMGNAIMTFYSALIDLLGRCAPE | 2405 |
RYR1 | AIEEAIRISEDPARDGPGIRRDRRREHFGE>E<PPEENRVHLGHAIMSFYAALIDLLGRCAPE | 2439 |
RYR3 | AMQGAIKISENPALDLPSQGY-KREVSTGD>D<EEEEEIVHMGNAIMSFYSALIDLLGRCAPE | 2302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2375K | c.7123G>A | Putative Benign | SIFT: Polyphen: |