Paralogue Annotation for RYR2 residue 4850

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4850
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4850

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	F4921S	Central core disease	High	9	16621918

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	GVRAGGGIGDEIEDPAGDEYEIYRIIFDIT>F<FFFVIVILLAIIQGLIIDAFGELRDQQEQV	4880
RYR1	GVRAGGGIGDEIEDPAGDEYELYRVVFDIT>F<FFFVIVILLAIIQGLIIDAFGELRDQQEQV	4951
RYR3	GVRAGGGIGDEIEDPAGDPYEMYRIVFDIT>F<FFFVIVILLAIIQGLIIDAFGELRDQQEQV	4783
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4850 for RYR2.