Paralogue Annotation for RYR1 residue 2071

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2071
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2071

No paralogue variants have been mapped to residue 2071 for RYR1.



RYR1GIQLDGEEEEP--EEETTLGSRLMSLLEKV>R<LVKKKEEKPEEERSAEESKPRSLQELVSHM2101
RYR2GIELDEDG-SLDGNSDLTIRGRLLSLVEKV>T<YLKKKQA--EKPVESDSKKSSTLQQLISET2065
RYR3GVPLEEEE-EE--EEDTSWTGKLCALVYKI>K<GPPKPEK--EQPTEEEERCPTTLKELISQT1963
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2071Wc.6211C>T Putative BenignSIFT:
Polyphen: possibly damaging
p.R2071Qc.6212G>A Putative BenignSIFT:
Polyphen: benign