Paralogue Annotation for RYR2 residue 2313

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2313
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2313

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	V2346M	Malignant hyperthermia	High	9	14985404

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	KGYPDIGWNPVEGERYLDFLRFAVFCNGES>V<EENANVVVRLLIRRPECFGPALRGEGGNGL	2343
RYR1	KGYPDIGWNPCGGERYLDFLRFAVFVNGES>V<EENANVVVRLLIRKPECFGPALRGEGGSGL	2376
RYR3	KGYPDVGWNPIEGERYLSFLRFAVFVNSES>V<EENASVVVKLLIRRPECFGPALRGEGGNGL	2240
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 2313 for RYR2.