Paralogue Annotation for RYR2 residue 1518

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1518
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1518

No paralogue variants have been mapped to residue 1518 for RYR2.

RYR2	AGESMSPGQ-G-RNNNGLEIGCVVDAASGL>L<TFIANGKELSTYYQVEPSTKLFPAVFAQAT	1548
RYR1	GGDFVSPGQQGRISHTDLVIGCLVDLATGL>M<TFTANGKESNTFFQVEPNTKLFPAVFVLPT	1556
RYR3	GGDIVASSQRSNRSNVDLEIGCLVDLAMGM>L<SFSANGKELGTCYQVEPNTKVFPAVFLQPT	1452
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1518F	c.4552C>T	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