No paralogue variants have been mapped to residue 2345 for RYR2.
RYR2 | ENANVVVRLLIRRPECFGPALRGEGGNGLL>A<AMEEAIKIAEDPSRDGPSPNS-GSSKTLDT | 2374 |
RYR1 | ENANVVVRLLIRKPECFGPALRGEGGSGLL>A<AIEEAIRISEDPARDGPGIRRDRRREHFGE | 2408 |
RYR3 | ENASVVVKLLIRRPECFGPALRGEGGNGLL>A<AMQGAIKISENPALDLPSQGY-KREVSTGD | 2271 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2345T | c.7033G>A | Putative Benign | SIFT: Polyphen: |