Paralogue Annotation for RYR1 residue 5006

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 5006
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 5006

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	G4935R	Catecholaminergic polymorphic ventricular tachycar	High	9	19926015, 24025405, 27114410

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	FETHTLEEHNLANYMFFLMYLINKDETEHT>G<QESYVWKMYQERCWDFFPAGDCFRKQYEDQ	5036
RYR2	FETHTLQEHNLANYLFFLMYLINKDETEHT>G<QESYVWKMYQERCWEFFPAGDCFRKQYEDQ	4965
RYR3	FETHTLQEHNLANYLFFLMYLINKDETEHT>G<QESYVWKMYQERCWDFFPAGDCFRKQYEDQ	4868
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 5006 for RYR1.