No paralogue variants have been mapped to residue 2353 for RYR2.
RYR2 | LLIRRPECFGPALRGEGGNGLLAAMEEAIK>I<AEDPSRDGPSPNS-GSSKTLDTEEEEDDTI | 2382 |
RYR1 | LLIRKPECFGPALRGEGGSGLLAAIEEAIR>I<SEDPARDGPGIRRDRRREHFGEEPPEENRV | 2416 |
RYR3 | LLIRRPECFGPALRGEGGNGLLAAMQGAIK>I<SENPALDLPSQGY-KREVSTGDDEEEEEIV | 2279 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2353V | c.7057A>G | Putative Benign | rs375356774 | SIFT: deleterious Polyphen: probably damaging |