No paralogue variants have been mapped to residue 2451 for RYR2.
RYR2 | SILRSLIPLGDLVGVISIAFQMPTIAKDGN>V<VEPDMSAGFCPDHKAAMVLFLDRVYGIEVQ | 2481 |
RYR1 | AILRSLVPLEDLVGIISLPLQIPTLGKDGA>L<VQPKMSASFVPDHKASMVLFLDRVYGIENQ | 2515 |
RYR3 | SILRSLVPTEDLVGIISIPLKLPSLNKDGS>V<SEPDMAANFCPDHKAPMVLFLDRVYGIKDQ | 2378 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2451M | c.7351G>A | Putative Benign | rs140798752 | SIFT: tolerated Polyphen: probably damaging |