Paralogue Annotation for RYR1 residue 4782

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4782
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4782

No paralogue variants have been mapped to residue 4782 for RYR1.



RYR1AHNER-KPNPPPGLLTWLMSIDVKYQIWKF>G<VIFTDNSFLYLGWYMVMSLLGHYNNFFFAA4812
RYR2DAREKKKPKKDSSLSAVLNSIDVKYQMWKL>G<VVFTDNSFLYLAWYMTMSVLGHYNNFFFAA4741
RYR3PVEET-KA-EAASLVSWLSSIDMKYHIWKL>G<VVFTDNSFLYLAWYTTMSVLGHYNNFFFAA4644
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G4782Rc.14344G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. Prenat Diagn. 2015 35(10):1022-9. doi: 10.1002/pd.4674. 26275793
p.G4782Vc.14345G>T Putative BenignSIFT:
Polyphen: