Paralogue Annotation for RYR1 residue 3987

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3987
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3987

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	A3943T	Sudden unexplained death	High	9	24631775

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	AKQVFNSLTEYIQGPCTGNQQSLAHSRLWD>A<VVGFLHVFAHMMMKLAQDSSQIELLKELLD	4017
RYR2	AKQVFNTLTEYIQGPCTGNQQSLAHSRLWD>A<VVGFLHVFAHMQMKLSQDSSQIELLKELMD	3973
RYR3	TKQIFNSLTEYIQGPCIGNQQSLAHSRLWD>A<VVGFLHVFANMQMKLSQDSSQIELLKELLD	3869
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 3987 for RYR1.