No paralogue variants have been mapped to residue 334 for RYR1.
RYR1 | HTKATSFCFRI---SKEKLDVAPKRDVEGM>G<PPEIKYGESLCFVQHVASGLWLTYAAPDPK | 364 |
RYR2 | DVKSTAFTFRS---SKEKLDVGVRKEVDGM>G<TSEIKYGDSVCYIQHVDTGLWLTYQSVDVK | 380 |
RYR3 | DTKSTAFSFRASKELKEKLDSSHKRDIEGM>G<VPEIKYGDSVCFVQHIASGLWVTYKAQDAK | 372 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G334D | c.1001G>A | Putative Benign | SIFT: Polyphen: | ||
p.Gly334Val | c.1001G>T | Unknown | SIFT: Polyphen: |