Paralogue Annotation for RYR2 residue 4115

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4115
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4115

No paralogue variants have been mapped to residue 4115 for RYR2.

RYR2	KRFHEPAKDIGFNVAVLLTNLSEHMPNDTR>L<QTFLELAESVLNYFQPFLGRIEIMGSAKRI	4145
RYR1	NRFQEPARDIGFNVAVLLTNLSEHVPHDPR>L<HNFLELAESILEYFRPYLGRIEIMGASRRI	4189
RYR3	DRFHEPAKDIGFNVAVLLTNLSEHMPNDSR>L<KCLLDPAESVLNYFEPYLGRIEIMGGAKKI	4041
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4115F	c.12343C>T	Inherited Arrhythmia	CPVT		SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	CPVT	Intravenous epinephrine infusion test in diagnosis of catecholaminergic polymorphic ventricular tachycardia. J Cardiovasc Electrophysiol. 2012 23(2):194-9. doi: 10.1111/j.1540-8167.2011.02188.x 21954897