Paralogue Annotation for RYR2 residue 4592

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4592
Reference Amino Acid: C - Cysteine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4592

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	C4664R	Malignant hyperthermia	High	9	19191333

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	EESSGYMEPTLRILAILHTVISFFCIIGYY>C<LKVPLVIFKREKEVARKLEFDGLYITEQPS	4622
RYR1	EESTGYMEPALRCLSLLHTLVAFLCIIGYN>C<LKVPLVIFKREKELARKLEFDGLYITEQPE	4694
RYR3	QESTGYMAPTLRALAIIHTIISLVCVVGYY>C<LKVPLVVFKREKEIARKLEFDGLYITEQPS	4527
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4592 for RYR2.