Paralogue Annotation for RYR2 residue 1286

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1286
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1286

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR3	T1272M	Hyperinsulinism	High	9	23869231

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	PQFLQVPSNHEHIEVTRIDGTIDSSPCLKV>T<QKSFGSQNSNTDIMFYRLSMPIECAEVFSK	1316
RYR1	PQFEPVPLEHPHYEVSRVDGTVDTPPCLRL>T<HRTWGSQNSLVEMLFLRLSLPVQFHQHFRC	1302
RYR3	PTFVNVPKDHPHIEVMRIDGTMDSPPCLKV>T<HKTFGTQNSNADMIYCRLSMPVECHSSFSH	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 1286 for RYR2.