Paralogue Annotation for RYR2 residue 3039

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3039
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3039

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR1	S3074P	Foetal akinesia syndrome	Medium	7	24961629

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	CKLGVLVRHRISLFGNDATSIVNCLHILGQ>T<LDARTVMKTGLESVKSALRAFLDNAAEDLE	3069
RYR1	CKLAALVRHRVSLFGTDAPAVVNCLHILAR>S<LDARTVMKSGPEIVKAGLRSFFESASEDIE	3104
RYR3	CKLAALVRHRISLFGSDSTTMVSCLHILAQ>T<LDTRTVMKSGSELVKAGLRAFFENAAEDLE	2965
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

There are currently no reported variants at residue 3039 for RYR2.