No paralogue variants have been mapped to residue 4301 for RYR2.
RYR2 | VKKMTVKDMVTAFFSSYWSIFMTLLHFVAS>V<FRGFFRIICSLLLGGSLVEGAKKIKVAELL | 4331 |
RYR1 | LRRLTAREAATAVAALLWAAVTRAGAAGAG>A<AAGALGLLWGSLFGGGLVEGAKKVTVTELL | 4380 |
RYR3 | VKKMTAKELVKVLFSFFWMLFVGLFQLLFT>I<LGGIFQILWSTVFGGGLVEGAKNIRVTKIL | 4232 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4301L | c.12901G>C | Putative Benign | SIFT: Polyphen: |