Paralogue Annotation for RYR2 residue 2562

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2562
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2562

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	T2596I	Malignant hyperthermia	High	9	16917943

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	APLFAGTEHHASLIDSLLHTVYRLSKGCSL>T<KAQRDSIEVCLLSICGQLRPSMMQHLLRRL	2592
RYR1	APLFAGTEHRAIMVDSMLHTVYRLSRGRSL>T<KAQRDVIEDCLMSLCRYIRPSMLQHLLRRL	2626
RYR3	APLFAGTEHCTSLIDSTLQTIYRLSKGRSL>T<KAQRDTIEECLLAICNHLRPSMLQQLLRRL	2489
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 2562 for RYR2.