Paralogue Annotation for RYR1 residue 2095

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2095
Reference Amino Acid: Q - Glutamine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2095

No paralogue variants have been mapped to residue 2095 for RYR1.



RYR1SLLEKVRLVKKKEEKPEEERSAEESKPRSL>Q<ELVSHMVVRWAQEDFVQSPELVRAMFSLLH2125
RYR2SLVEKVTYLKKKQA--EKPVESDSKKSSTL>Q<QLISETMVRWAQESVIEDPELVRAMFVLLH2089
RYR3ALVYKIKGPPKPEK--EQPTEEEERCPTTL>K<ELISQTMICWAQEDQIQDSELVRMMFNLLR1987
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q2095Kc.6283C>A Putative BenignSIFT:
Polyphen: