Paralogue Annotation for RYR2 residue 1696

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1696
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1696

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	G1704S	Myopathy, congenital with cores	High	9	18253926

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	ALGNHRVAHALCSHVDEPQLLYAIENKYMP>G<LLRAGYYDLLIDIHLSSYATARLMMNNEYI	1726
RYR1	ALGNNRVAHALCSHVDQAQLLHALEDAHLP>G<PLRAGYYDLLISIHLESACRSRRSMLSEYI	1734
RYR3	ALGNSRVAYALCSHVDLSQLFYAIDNKYLP>G<LLRSGFYDLLISIHLASAKERKLMMKNEYI	1630
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 1696 for RYR2.