Paralogue Annotation for RYR1 residue 2676

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2676
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2676

No paralogue variants have been mapped to residue 2676 for RYR1.



RYR1NHYERCWKYYCLPTGWANFGVTSEEELHLT>R<KLFWGIFDSLAHKKYDPELYRMAMPCLCAI2706
RYR2NHYERCWKYYCLPGGWGNFGAASEEELHLS>R<KLFWGIFDALSQKKYEQELFKLALPCLSAV2672
RYR3NHYEQCWKYYCLPSGWGSYGLAVEEELHLT>E<KLFWGIFDSLSHKKYDPDLFRMALPCLSAI2569
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2676Wc.8026C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. Arch Neurol. 2004 61(1):106-13. 14732627
p.R2676Qc.8027G>A Putative BenignSIFT:
Polyphen: