No paralogue variants have been mapped to residue 342 for RYR2.
RYR2 | LLMDKEKADVKSTAFTFRS---SKEKLDVG>V<RKEVDGMGTSEIKYGDSVCYIQHVDTGLWL | 372 |
RYR1 | VVVDASKAHTKATSFCFRI---SKEKLDVA>P<KRDVEGMGPPEIKYGESLCFVQHVASGLWL | 356 |
RYR3 | ILQDRAKSDTKSTAFSFRASKELKEKLDSS>H<KRDIEGMGVPEIKYGDSVCFVQHIASGLWV | 364 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V342M | c.1024G>A | Putative Benign | rs371898166 | SIFT: tolerated Polyphen: benign |