Paralogue Annotation for RYR2 residue 4722

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4722
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4722

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	L4793P	Central core disease	High	9	11709545

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	SSLSAVLNSIDVKYQMWKLGVVFTDNSFLY>L<AWYMTMSVLGHYNNFFFAAHLLDIAMGFKT	4752
RYR1	PGLLTWLMSIDVKYQIWKFGVIFTDNSFLY>L<GWYMVMSLLGHYNNFFFAAHLLDIAMGVKT	4823
RYR3	ASLVSWLSSIDMKYHIWKLGVVFTDNSFLY>L<AWYTTMSVLGHYNNFFFAAHLLDIAMGFKT	4655
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4722 for RYR2.