Paralogue Annotation for RYR2 residue 4755

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4755
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4755

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	T4826I	Malignant hyperthermia	High	9	10888602, 19648156, 20461000, 22131268, 22139840, 12732639

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	YMTMSVLGHYNNFFFAAHLLDIAMGFKTLR>T<ILSSVTHNGKQLVLTVGLLAVVVYLYTVVA	4785
RYR1	YMVMSLLGHYNNFFFAAHLLDIAMGVKTLR>T<ILSSVTHNGKQLVMTVGLLAVVVYLYTVVA	4856
RYR3	YTTMSVLGHYNNFFFAAHLLDIAMGFKTLR>T<ILSSVTHNGKQLVLTVGLLAVVVYLYTVVA	4688
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4755 for RYR2.