Paralogue Annotation for RYR1 residue 4493

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4493
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4493

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	E4431K	Catecholaminergic polymorphic ventricular tachycar	Medium	6	18752142, 24025405

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	EPPTPEGSP-ILKRKLGVDGVEEELPPEPE>P<EPEPELEPEKADAENGEKEEVPEPTPEPPK	4523
RYR2	-PVPMPE-V-QEKFQEQ--KA---KEEEKE>E<KEETKSEPEKAEGEDGEKEEKAKEDKGKQK	4461
RYR3	DEPPTLESTVQKKRKA---QA---AEMKAA>N<EAEGKVESEKADMEDGEKEDKDKEEEQAEY	4364
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P4493A	c.13477C>G	Putative Benign		rs149455643	SIFT: Polyphen:
p.P4493S	c.13477C>T	Putative Benign			SIFT: Polyphen: