No paralogue variants have been mapped to residue 675 for RYR2.
RYR2 | QTRLVNHVSSMRPNIFLGVSEGSAQYKKWY>Y<ELMVDHTEPFVTAEATHLRVGWASTEGYSP | 705 |
RYR1 | QTNLINYVTSIRPNIFVGRAEGTTQYSKWY>F<EVMVDEVTPFLTAQATHLRVGWALTEGYTP | 693 |
RYR3 | QTRLINDVTSIRPNIFLGVAEGSAQYKKWY>F<ELIIDQVDPFLTAEPTHLRVGWASSSGYAP | 692 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y675C | c.2024A>G | Putative Benign | SIFT: Polyphen: |