No paralogue variants have been mapped to residue 4469 for RYR2.
RYR2 | GEKEEKAKEDKGKQKLR--------QLHTH>R<YGEPEVPESAFWKKIIAYQQKLLNYFARNF | 4499 |
RYR1 | GEKEEVPEPTPEPPKKQ---------APPS>P<PPKKEEAGGEFWGELEVQRVKFLNYLSRNF | 4560 |
RYR3 | GEKEDKDKEEEQAEYLWTEVTKKKKRRCGQ>K<VEKPEAFTANFFKGLEIYQTKLLHYLARNF | 4410 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R4469G | c.13405A>G | Putative Benign | rs367809296 | SIFT: tolerated Polyphen: possibly damaging | |
p.R4469T | c.13406G>C | Putative Benign | SIFT: Polyphen: |