No paralogue variants have been mapped to residue 2438 for RYR2.
RYR2 | LIHAGKGEAIRIRSILRSLIPLGDLVGVIS>I<AFQMPTIAKDGNVVEPDMSAGFCPDHKAAM | 2468 |
RYR1 | LIQAGKGEALRIRAILRSLVPLEDLVGIIS>L<PLQIPTLGKDGALVQPKMSASFVPDHKASM | 2502 |
RYR3 | LIQTGKGEAIRIRSILRSLVPTEDLVGIIS>I<PLKLPSLNKDGSVSEPDMAANFCPDHKAPM | 2365 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2438L | c.7312A>C | Putative Benign | SIFT: Polyphen: |