Paralogue Annotation for RYR2 residue 4793

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4793
Reference Amino Acid: Y - Tyrosine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4793

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	Y4864C	Central core disease	High	9	14670767

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	NGKQLVLTVGLLAVVVYLYTVVAFNFFRKF>Y<NKSEDGDTPDMKCDDMLTCYMFHMYVGVRA	4823
RYR1	NGKQLVMTVGLLAVVVYLYTVVAFNFFRKF>Y<NKSEDEDEPDMKCDDMMTCYLFHMYVGVRA	4894
RYR3	NGKQLVLTVGLLAVVVYLYTVVAFNFFRKF>Y<NKSEDDDEPDMKCDDMMTCYLFHMYVGVRA	4726
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4793 for RYR2.