Paralogue Annotation for RYR1 residue 1742

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1742
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1742

No paralogue variants have been mapped to residue 1742 for RYR1.



RYR1DLLISIHLESACRSRRSMLSEYIVPLTPET>R<AITLFPPGRSTENGHPRHGLPGVGVTTSLR1772
RYR2DLLIDIHLSSYATARLMMNNEYIVPMTEET>K<SITLFPD------ENKKHGLPGIGLSTSLR1758
RYR3DLLISIHLASAKERKLMMKNEYIIPITSTT>R<NIRLFPD------ESKRHGLPGVGLRTCLK1662
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1742Hc.5225G>A Putative BenignSIFT: deleterious
Polyphen: possibly damaging