No paralogue variants have been mapped to residue 2478 for RYR1.
RYR1 | GEALRIRAILRSLVPLEDLVGIISLPLQIP>T<LGKDGALVQPKMSASFVPDHKASMVLFLDR | 2508 |
RYR2 | GEAIRIRSILRSLIPLGDLVGVISIAFQMP>T<IAKDGNVVEPDMSAGFCPDHKAAMVLFLDR | 2474 |
RYR3 | GEAIRIRSILRSLVPTEDLVGIISIPLKLP>S<LNKDGSVSEPDMAANFCPDHKAPMVLFLDR | 2371 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T2478N | c.7433C>A | Putative Benign | rs141298868 | SIFT: Polyphen: benign |