Paralogue Annotation for RYR1 residue 4990

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4990
Reference Amino Acid: M - Methionine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4990

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2L4919SCatecholaminergic polymorphic ventricular tachycarMedium9 23595086

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.



RYR1FICGIGSDYFDTTPHGFETHTLEEHNLANY>M<FFLMYLINKDETEHTGQESYVWKMYQERCW5020
RYR2FICGIGNDYFDTVPHGFETHTLQEHNLANY>L<FFLMYLINKDETEHTGQESYVWKMYQERCW4949
RYR3FICGIGNDYFDTTPHGFETHTLQEHNLANY>L<FFLMYLINKDETEHTGQESYVWKMYQERCW4852
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4990 for RYR1.