Paralogue Annotation for RYR1 residue 178

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 178
Reference Amino Acid: Y - Tyrosine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 178

No paralogue variants have been mapped to residue 178 for RYR1.



RYR1TMHPASKQRSEGEKVRVGDDIILVSVSSER>Y<LHLSTASGELQVDASFMQTLWNMNPICSR-207
RYR2TIHPASKQRSEGEKVRVGDDLILVSVSSER>Y<LHLSYGNGSLHVDAAFQQTLWSVAPISSGS221
RYR3TIHPASKQRSEGEKVRIGDDLILVSVSSER>Y<LHLSVSNGNIQVDASFMQTLWNVHPTCSGS211
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y178Cc.533A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat. 2005 26(5):413-25. 16163667
p.Y178Fc.533A>T Putative BenignSIFT:
Polyphen: probably damaging