No paralogue variants have been mapped to residue 348 for RYR2.
RYR2 | KADVKSTAFTFRS---SKEKLDVGVRKEVD>G<MGTSEIKYGDSVCYIQHVDTGLWLTYQSVD | 378 |
RYR1 | KAHTKATSFCFRI---SKEKLDVAPKRDVE>G<MGPPEIKYGESLCFVQHVASGLWLTYAAPD | 362 |
RYR3 | KSDTKSTAFSFRASKELKEKLDSSHKRDIE>G<MGVPEIKYGDSVCFVQHIASGLWVTYKAQD | 370 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G348D | c.1043G>A | Putative Benign | SIFT: Polyphen: |