Paralogue Annotation for RYR1 residue 4085

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4085
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4085

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	G4041R	Long QT syndrome	High	9	24981977

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 RYR1.

RYR1	EMILKFFDMFLKLKDIVGSEAFQDYVTDPR>G<LISKKDFQKAMDSQKQFSGPEIQFLLSCSE	4115
RYR2	EMILKFFDMFLKLKDLTSSDTFKEYDPDGK>G<VISKRDFHKAMESHKHYTQSETEFLLSCAE	4071
RYR3	EMILKFFDMFLKLKDLTSSDTFKEYDPDGK>G<IISKKEFQKAMEGQKQYTQSEIDFLLSCAE	3967
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 4085 for RYR1.