No paralogue variants have been mapped to residue 2482 for RYR1.
RYR1 | RIRAILRSLVPLEDLVGIISLPLQIPTLGK>D<GALVQPKMSASFVPDHKASMVLFLDRVYGI | 2512 |
RYR2 | RIRSILRSLIPLGDLVGVISIAFQMPTIAK>D<GNVVEPDMSAGFCPDHKAAMVLFLDRVYGI | 2478 |
RYR3 | RIRSILRSLVPTEDLVGIISIPLKLPSLNK>D<GSVSEPDMAANFCPDHKAPMVLFLDRVYGI | 2375 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2482N | c.7444G>A | Putative Benign | SIFT: Polyphen: | ||
p.D2482G | c.7445A>G | Putative Benign | SIFT: Polyphen: |