Paralogue Annotation for RYR2 residue 398

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 398
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 398

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	H382N	Malignant hyperthermia ?	High	9	19346234, 20142353

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	TGLWLTYQSVDVKSVRMGSIQRKAIMHHEG>H<MDDGISLSRSQHEESRTARVIRSTVFLFNR	428
RYR1	SGLWLTYAAPDPKALRLGVLKKKAMLHQEG>H<MDDALSLTRCQQEESQAARMIHSTNGLYNQ	412
RYR3	SGLWVTYKAQDAKTSRLGPLKRKVILHQEG>H<MDDGLTLQRCQREESQAARIIRNTTALFSQ	420
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 398 for RYR2.