No paralogue variants have been mapped to residue 2347 for RYR2.
RYR2 | ANVVVRLLIRRPECFGPALRGEGGNGLLAA>M<EEAIKIAEDPSRDGPSPNS-GSSKTLDTEE | 2376 |
RYR1 | ANVVVRLLIRKPECFGPALRGEGGSGLLAA>I<EEAIRISEDPARDGPGIRRDRRREHFGEEP | 2410 |
RYR3 | ASVVVKLLIRRPECFGPALRGEGGNGLLAA>M<QGAIKISENPALDLPSQGY-KREVSTGDDE | 2273 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2347V | c.7039A>G | Putative Benign | SIFT: Polyphen: |