Paralogue Annotation for RYR2 residue 3768

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3768
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3768

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
RYR1G3806RMalignant hyperthermiaHigh9 19191329

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.



RYR2EMVLQTISASKGETGPMVAATLKLGIAILN>G<GNSTVQQKMLDYLKEKKDVGFFQSLAGLMQ3798
RYR1EMVLQMISACKGETGAMVSSTLKLGISILN>G<GNAEVQQKMLDYLKDKKEVGFFQSIQALMQ3836
RYR3EMVLQMISASKGEMSPMVVETLKLGIAILN>G<GNAGVQQKMLDYLKEKKDAGFFQSLSGLMQ3688
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

There are currently no reported variants at residue 3768 for RYR2.