No paralogue variants have been mapped to residue 2391 for RYR1.
RYR1 | PECFGPALRGEGGSGLLAAIEEAIRISEDP>A<RDGPGIRRDRRREHFGEEPPEENRVHLGHA | 2421 |
RYR2 | PECFGPALRGEGGNGLLAAMEEAIKIAEDP>S<RDGPSPNS-GSSKTLDTEEEEDDTIHMGNA | 2387 |
RYR3 | PECFGPALRGEGGNGLLAAMQGAIKISENP>A<LDLPSQGY-KREVSTGDDEEEEEIVHMGNA | 2284 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2391V | c.7172C>T | Putative Benign | rs373264653 | SIFT: deleterious Polyphen: possibly damaging |