Paralogue Annotation for RYR1 residue 109

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 109
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 109

No paralogue variants have been mapped to residue 109 for RYR1.



RYR1V---E-------SSQGGGHRTLLYGHAILL>R<HAHSRMYLSCLTTSRSMTDKLAFDVGLQED139
RYR2QVDVEKWKFMMKTAQGGGHRTLLYGHAILL>R<HSYSGMYLCCLSTSRSSTDKLAFDVGLQED152
RYR3E---G-------AAQGGGHRTLLYGHAVLL>R<HSFSGMYLTCLTTSRSQTDKLAFDVGLREH142
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R109Wc.325C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet. 2006 15(18):2791-803. 16940308
Other Myopathy RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat. 2013 34(7):986-96. doi: 10.1002/humu.22326. 23553787
Unknown Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology. 2005 65(12):1930-5. 16380615
p.R109Qc.326G>A Putative BenignSIFT:
Polyphen: