Paralogue Annotation for RYR1 residue 2785

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2785
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2785

No paralogue variants have been mapped to residue 2785 for RYR1.



RYR1INKFAEYTHEKWAFDKIQNNWSYGENIDEE>L<KTHPMLRPYKTFSEKDKEIYRWPIKESLKA2815
RYR2INKYAEHSHDKWSMDKLANGWIYGEIYSDS>S<KVQPLMKPYKLLSEKEKEIYRWPIKESLKT2781
RYR3VTKYAEHSHDKWACDKSQSGWKYGISLDEN>V<KTHPLIRPFKTLTEKEKEIYRWPARESLKT2678
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L2785Vc.8353C>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan. Anesth Analg. 2009 109(4):1273-7. 19762757