Paralogue Annotation for RYR2 residue 4799

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4799
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4799

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR3	D4702N	Epileptic encephalopathy	Medium	9	25262651

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	LTVGLLAVVVYLYTVVAFNFFRKFYNKSED>G<DTPDMKCDDMLTCYMFHMYVGVRAGGGIGD	4829
RYR1	MTVGLLAVVVYLYTVVAFNFFRKFYNKSED>E<DEPDMKCDDMMTCYLFHMYVGVRAGGGIGD	4900
RYR3	LTVGLLAVVVYLYTVVAFNFFRKFYNKSED>D<DEPDMKCDDMMTCYLFHMYVGVRAGGGIGD	4732
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4799 for RYR2.