Paralogue Annotation for RYR2 residue 4811

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4811
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4811

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	T4882M	Core rod myopathy	High	9	18312400

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	YTVVAFNFFRKFYNKSEDGDTPDMKCDDML>T<CYMFHMYVGVRAGGGIGDEIEDPAGDEYEI	4841
RYR1	YTVVAFNFFRKFYNKSEDEDEPDMKCDDMM>T<CYLFHMYVGVRAGGGIGDEIEDPAGDEYEL	4912
RYR3	YTVVAFNFFRKFYNKSEDDDEPDMKCDDMM>T<CYLFHMYVGVRAGGGIGDEIEDPAGDPYEM	4744
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 4811 for RYR2.