No paralogue variants have been mapped to residue 2474 for RYR1.
RYR1 | QAGKGEALRIRAILRSLVPLEDLVGIISLP>L<QIPTLGKDGALVQPKMSASFVPDHKASMVL | 2504 |
RYR2 | HAGKGEAIRIRSILRSLIPLGDLVGVISIA>F<QMPTIAKDGNVVEPDMSAGFCPDHKAAMVL | 2470 |
RYR3 | QTGKGEAIRIRSILRSLVPTEDLVGIISIP>L<KLPSLNKDGSVSEPDMAANFCPDHKAPMVL | 2367 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2474V | c.7420C>G | Putative Benign | rs375128412 | SIFT: tolerated Polyphen: benign |