Paralogue Annotation for RYR2 residue 4816

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4816
Reference Amino Acid: H - Histidine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4816

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	H4887Y	Multi-minicore disease	High	9	17204937

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.

RYR2	FNFFRKFYNKSEDGDTPDMKCDDMLTCYMF>H<MYVGVRAGGGIGDEIEDPAGDEYEIYRIIF	4846
RYR1	FNFFRKFYNKSEDEDEPDMKCDDMMTCYLF>H<MYVGVRAGGGIGDEIEDPAGDEYELYRVVF	4917
RYR3	FNFFRKFYNKSEDDDEPDMKCDDMMTCYLF>H<MYVGVRAGGGIGDEIEDPAGDPYEMYRIVF	4749
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4816 for RYR2.