No paralogue variants have been mapped to residue 2426 for RYR2.
RYR2 | IDLLGRCAPEMHLIHAGKGEAIRIRSILRS>L<IPLGDLVGVISIAFQMPTIAKDGNVVEPDM | 2456 |
RYR1 | IDLLGRCAPEMHLIQAGKGEALRIRAILRS>L<VPLEDLVGIISLPLQIPTLGKDGALVQPKM | 2490 |
RYR3 | IDLLGRCAPEMHLIQTGKGEAIRIRSILRS>L<VPTEDLVGIISIPLKLPSLNKDGSVSEPDM | 2353 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L2426P | c.7277T>C | Putative Benign | rs28677142 | SIFT: deleterious Polyphen: probably damaging |