No paralogue variants have been mapped to residue 160 for RYR1.
RYR1 | LAFDVGLQEDATGEACWWTMHPASKQRSEG>E<KVRVGDDIILVSVSSERYLHLSTASGELQV | 190 |
RYR2 | LAFDVGLQEDTTGEACWWTIHPASKQRSEG>E<KVRVGDDLILVSVSSERYLHLSYGNGSLHV | 203 |
RYR3 | LAFDVGLREHATGEACWWTIHPASKQRSEG>E<KVRIGDDLILVSVSSERYLHLSVSNGNIQV | 193 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E160G | c.479A>G | Other Myopathy | rs193922752 | SIFT: Polyphen: | |
Reports | Other Myopathy | RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet. 2004 41(3):e33. 14985404 |