No paralogue variants have been mapped to residue 2430 for RYR1.
RYR1 | DRRREHFGEEPPEENRVHLGHAIMSFYAAL>I<DLLGRCAPEMHLIQAGKGEALRIRAILRSL | 2460 |
RYR2 | -GSSKTLDTEEEEDDTIHMGNAIMTFYSAL>I<DLLGRCAPEMHLIHAGKGEAIRIRSILRSL | 2426 |
RYR3 | -KREVSTGDDEEEEEIVHMGNAIMSFYSAL>I<DLLGRCAPEMHLIQTGKGEAIRIRSILRSL | 2323 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I2430M | c.7290C>G | Putative Benign | SIFT: Polyphen: |