Paralogue Annotation for RYR1 residue 4248

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4248
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4248

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	A4204V	Ventricular fibrillation, recurrent	High	9	26298385

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	FDVVNEGGEAEKMELFVSFCEDTIFEMQIA>A<QISEPEGEPETDEDEGAGAAEAGAEGAEEG	4278
RYR2	FDVVNEGGEKEKMELFVNFCEDTIFEMQLA>A<QISESDLNERSANKEESEK-----ERPEEQ	4229
RYR3	FDVVNEGGEQEKMELFVNFCEDTIFEMQLA>S<QISESDSADRPEEEEEDEDSSYVLEIAGEE	4130
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 4248 for RYR1.