Paralogue Annotation for RYR2 residue 1964

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1964
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1964

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1E1997KFetal hypokinesiaHigh9 26578207

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 RYR2.



RYR2AKLQDNQRFRYNEVMQALNMSAALTARKTK>E<FRSPPQEQINMLLNFKD--DKSECPCPEEI1992
RYR1DKLQANQRSRYGLLIKAFSMTAAETARRTR>E<FRSPPQEQINMLLQFKDGTDEEDCPLPEEI2027
RYR3SKLQANQKFRYNELMQALNMSAALTARKTK>E<FRSPPQEQINMLLNFQL--GE-NCPCPEEI1892
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 1964 for RYR2.