Paralogue Annotation for RYR1 residue 1049

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1049
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1049

No paralogue variants have been mapped to residue 1049 for RYR1.



RYR1RLVPYRLLDEATKRSNRDSLCQAVRTLLGY>G<YNIEPPDQEP-SQVEN-QSRCDRVRIFRAE1077
RYR2RLVPYTLLDDRTKKSNKDSLREAVRTLLGY>G<YNLEAPDQDHAARAEVCSGTGERFRIFRAE1091
RYR3RLVPYALLDERTKKSNRDSLREAVRTFVGY>G<YNIEPSDQEL-ADSAVEKVSIDKIRFFRVE1077
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1049Sc.3145G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935