Paralogue Annotation for RYR1 residue 76

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 76
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 76

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	A77V	Arrhythmogenic right ventricular dysplasia type 2	High	9	16084945, 19913485, 22374134, 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	CFLEPTSNAQNVPPDLAICCFVLEQSLSVR>A<LQEMLANTVEAG--V---E-------SSQG	94
RYR2	CFLESTSNSKNVPPDLSICTFVLEQSLSVR>A<LQEMLANTVEKSEGQVDVEKWKFMMKTAQG	107
RYR3	CFLEPTSEAKYIPPDLCVCNFVLEQSLSVR>A<LQEMLANTGENG-GE---G-------AAQG	97
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 76 for RYR1.