Paralogue Annotation for RYR1 residue 367

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 367
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 367

No paralogue variants have been mapped to residue 367 for RYR1.



RYR1EIKYGESLCFVQHVASGLWLTYAAPDPKAL>R<LGVLKKKAMLHQEGHMDDALSLTRCQQEES397
RYR2EIKYGDSVCYIQHVDTGLWLTYQSVDVKSV>R<MGSIQRKAIMHHEGHMDDGISLSRSQHEES413
RYR3EIKYGDSVCFVQHIASGLWVTYKAQDAKTS>R<LGPLKRKVILHQEGHMDDGLTLQRCQREES405
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R367Qc.1100G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904
p.R367Lc.1100G>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.R367Wc.1099C>T Putative BenignSIFT:
Polyphen: probably damaging