Paralogue Annotation for RYR1 residue 3838

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3838
Reference Amino Acid: C - Cysteine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3838

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2C3800FVentricular tachycardia, polymorphicHigh9 16188589, 24025405

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.



RYR1NAEVQQKMLDYLKDKKEVGFFQSIQALMQT>C<SVLDLNAFERQNKAEGLGMVNEDGTVINRQ3868
RYR2NSTVQQKMLDYLKEKKDVGFFQSLAGLMQS>C<SVLDLNAFERQNKAEGLGMVTEEGS-----3825
RYR3NAGVQQKMLDYLKEKKDAGFFQSLSGLMQS>C<SVLDLNAFERQNKAEGLGMVTEEGTLIVRE3720
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 3838 for RYR1.