Paralogue Annotation for RYR1 residue 1043

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1043
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1043

No paralogue variants have been mapped to residue 1043 for RYR1.



RYR1PARRNPRLVPYRLLDEATKRSNRDSLCQAV>R<TLLGYGYNIEPPDQEP-SQVEN-QSRCDRV1071
RYR2KNRRNPRLVPYTLLDDRTKKSNKDSLREAV>R<TLLGYGYNLEAPDQDHAARAEVCSGTGERF1085
RYR3KNKRNPRLVPYALLDERTKKSNRDSLREAV>R<TFVGYGYNIEPSDQEL-ADSAVEKVSIDKI1071
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1043Cc.3127C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
Other Myopathy Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
p.R1043Hc.3128G>A Putative BenignSIFT: deleterious
Polyphen: probably damaging