Paralogue Annotation for RYR2 residue 4733

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4733
Reference Amino Acid: H - Histidine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4733

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	H4804Y	Multi-minicore disease	High	9	17204937

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	VKYQMWKLGVVFTDNSFLYLAWYMTMSVLG>H<YNNFFFAAHLLDIAMGFKTLRTILSSVTHN	4763
RYR1	VKYQIWKFGVIFTDNSFLYLGWYMVMSLLG>H<YNNFFFAAHLLDIAMGVKTLRTILSSVTHN	4834
RYR3	MKYHIWKLGVVFTDNSFLYLAWYTTMSVLG>H<YNNFFFAAHLLDIAMGFKTLRTILSSVTHN	4666
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4733 for RYR2.