Paralogue Annotation for RYR2 residue 4791

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4791
Reference Amino Acid: K - Lysine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4791

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	K4862E	Central core disease, RYR1-related	High	9	27066551

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	THNGKQLVLTVGLLAVVVYLYTVVAFNFFR>K<FYNKSEDGDTPDMKCDDMLTCYMFHMYVGV	4821
RYR1	THNGKQLVMTVGLLAVVVYLYTVVAFNFFR>K<FYNKSEDEDEPDMKCDDMMTCYLFHMYVGV	4892
RYR3	THNGKQLVLTVGLLAVVVYLYTVVAFNFFR>K<FYNKSEDDDEPDMKCDDMMTCYLFHMYVGV	4724
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4791 for RYR2.