No paralogue variants have been mapped to residue 4290 for RYR2.
RYR2 | SLKSLKKQMKKVKKMTVKDMVTAFFSSYWS>I<FMTLLHFVASVFRGFFRIICSLLLGGSLVE | 4320 |
RYR1 | SYRSLRRRVRRLRRLTAREAATAVAALLWA>A<VTRAGAAGAGAAAGALGLLWGSLFGGGLVE | 4369 |
RYR3 | TLKNLRKQYRNVKKMTAKELVKVLFSFFWM>L<FVGLFQLLFTILGGIFQILWSTVFGGGLVE | 4221 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I4290F | c.12868A>T | Putative Benign | SIFT: Polyphen: |