Paralogue Annotation for RYR2 residue 1760

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1760
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1760

No paralogue variants have been mapped to residue 1760 for RYR2.

RYR2	ITLFPD------ENKKHGLPGIGLSTSLRP>R<MQFSSPSFVSI------SNECYQYSPEFPL	1784
RYR1	ITLFPPGRSTENGHPRHGLPGVGVTTSLRP>P<HHFSPPCFVAALPAAGAAEAPARLSPAIPL	1804
RYR3	IRLFPD------ESKRHGLPGVGLRTCLKP>G<FRFSTPCFVVT------GEDHQKQSPEIPL	1688
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1760W	c.5278C>T	Inherited Arrhythmia			SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. PLoS One. 2015 10(7):e0130329. doi: 10.1371/journal.pone.0130329. 26132555
p.R1760G	c.5278C>G	Putative Benign			SIFT: Polyphen:
p.R1760Q	c.5279G>A	Putative Benign			SIFT: Polyphen: