Paralogue Annotation for RYR1 residue 4623

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4623
Reference Amino Acid: D - Aspartate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4623

No paralogue variants have been mapped to residue 4623 for RYR1.



RYR1EGSAAGDVSGAGSGGSSGW-GLGAGEEAEG>D<EDENMVYYFLEESTGYMEPALRCLSLLHTL4653
RYR2------LPTRSSSENAK-VTSLDS-----S>S<HRIIAVHYVLEESSGYMEPTLRILAILHTV4581
RYR3------DVANLWN-------SFND-----E>E<EEEAMVFFVLQESTGYMAPTLRALAIIHTI4486
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D4623Nc.13867G>A Other MyopathySIFT: deleterious
Polyphen:
ReportsOther Myopathy RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015 22(7):1094-112. doi: 10.1111/ene.12713. 25960145