Paralogue Annotation for RYR1 residue 705

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 705
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 705

No paralogue variants have been mapped to residue 705 for RYR1.



RYR1TAQATHLRVGWALTEGYTPYPGAGEGWGGN>G<VGDDLYSYGFDGLHLWTGHVARPVTSPGQH735
RYR2TAEATHLRVGWASTEGYSPYPGGGEEWGGN>G<VGDDLFSYGFDGLHLWSGCIARTVSSPNQH747
RYR3TAEPTHLRVGWASSSGYAPYPGGGEGWGGN>G<VGDDLYSYGFDGLHLWSGRIPRAVASINQH734
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G705Rc.2113G>C 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
p.G705Rc.2113G>A Putative BenignSIFT: deleterious
Polyphen: probably damaging