Paralogue Annotation for RYR1 residue 160

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 160
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 160

No paralogue variants have been mapped to residue 160 for RYR1.



RYR1LAFDVGLQEDATGEACWWTMHPASKQRSEG>E<KVRVGDDIILVSVSSERYLHLSTASGELQV190
RYR2LAFDVGLQEDTTGEACWWTIHPASKQRSEG>E<KVRVGDDLILVSVSSERYLHLSYGNGSLHV203
RYR3LAFDVGLREHATGEACWWTIHPASKQRSEG>E<KVRIGDDLILVSVSSERYLHLSVSNGNIQV193
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E160Gc.479A>G Other MyopathySIFT:
Polyphen:
ReportsOther 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