Paralogue Annotation for RYR1 residue 2591

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2591
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2591

No paralogue variants have been mapped to residue 2591 for RYR1.



RYR1LITKCAPLFAGTEHRAIMVDSMLHTVYRLS>R<GRSLTKAQRDVIEDCLMSLCRYIRPSMLQH2621
RYR2LLTRCAPLFAGTEHHASLIDSLLHTVYRLS>K<GCSLTKAQRDSIEVCLLSICGQLRPSMMQH2587
RYR3LLTRCAPLFAGTEHCTSLIDSTLQTIYRLS>K<GRSLTKAQRDTIEECLLAICNHLRPSMLQQ2484
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2591Gc.7771C>G 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.R2591Wc.7771C>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.R2591Lc.7772G>T Putative BenignSIFT:
Polyphen:
p.R2591Pc.7772G>C Putative BenignSIFT:
Polyphen: