Paralogue Annotation for RYR1 residue 4975

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4975
Reference Amino Acid: G - Glycine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4975

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR2G4904DCardiac arrestHigh9 27353043

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.



RYR1RDQQEQVKEDMETKCFICGIGSDYFDTTPH>G<FETHTLEEHNLANYMFFLMYLINKDETEHT5005
RYR2RDQQEQVKEDMETKCFICGIGNDYFDTVPH>G<FETHTLQEHNLANYLFFLMYLINKDETEHT4934
RYR3RDQQEQVREDMETKCFICGIGNDYFDTTPH>G<FETHTLQEHNLANYLFFLMYLINKDETEHT4837
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

There are currently no reported variants at residue 4975 for RYR1.