Paralogue Annotation for RYR2 residue 4193

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4193
Reference Amino Acid: C - Cysteine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4193

No paralogue variants have been mapped to residue 4193 for RYR2.

RYR2	PQVKESKRQFIFDVVNEGGEKEKMELFVNF>C<EDTIFEMQLAAQISESDLNERSANKEESEK	4223
RYR1	PQVKESKRQFIFDVVNEGGEAEKMELFVSF>C<EDTIFEMQIAAQISEPEGEPETDEDEGAGA	4267
RYR3	PQVKESKRQFIFDVVNEGGEQEKMELFVNF>C<EDTIFEMQLASQISESDSADRPEEEEEDED	4119
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C4193W	c.12579C>G	Inherited Arrhythmia	CPVT		SIFT: Polyphen:
Reports		Inherited Arrhythmia	CPVT	Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861