Paralogue Annotation for RYR2 residue 4737

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4737
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4737

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	F4808Y	Myopathy, congenital	High	9	23394784
RYR1	F4808L	Central core disease	High	9	23183335

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	MWKLGVVFTDNSFLYLAWYMTMSVLGHYNN>F<FFAAHLLDIAMGFKTLRTILSSVTHNGKQL	4767
RYR1	IWKFGVIFTDNSFLYLGWYMVMSLLGHYNN>F<FFAAHLLDIAMGVKTLRTILSSVTHNGKQL	4838
RYR3	IWKLGVVFTDNSFLYLAWYTTMSVLGHYNN>F<FFAAHLLDIAMGFKTLRTILSSVTHNGKQL	4670
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4737 for RYR2.