Paralogue Annotation for RYR2 residue 1233

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1233
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1233

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	Q1219P	Malignant hyperthermia	High	9	21965348

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	PVCSLGVAQVGRMNFGKDVSTLKYFTICGL>Q<EGYEPFAVNTNRDITMWLSKRLPQFLQVPS	1263
RYR1	PVCSLGPGQVGHLNLGQDVSSLRFFAICGL>Q<EGFEPFAINMQRPVTTWFSKGLPQFEPVPL	1249
RYR3	PICCLGLSQIGRMNLGTDASTFKFYTMCGL>Q<EGFEPFAVNMNRDVAMWFSKRLPTFVNVPK	1249
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 1233 for RYR2.