No paralogue variants have been mapped to residue 2360 for RYR2.
RYR2 | CFGPALRGEGGNGLLAAMEEAIKIAEDPSR>D<GPSPNS-GSSKTLDTEEEEDDTIHMGNAIM | 2389 |
RYR1 | CFGPALRGEGGSGLLAAIEEAIRISEDPAR>D<GPGIRRDRRREHFGEEPPEENRVHLGHAIM | 2423 |
RYR3 | CFGPALRGEGGNGLLAAMQGAIKISENPAL>D<LPSQGY-KREVSTGDDEEEEEIVHMGNAIM | 2286 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2360N | c.7078G>A | Putative Benign | rs373110998 | SIFT: deleterious Polyphen: probably damaging |