Paralogue Annotation for RYR2 residue 2770

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2770
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2770

No paralogue variants have been mapped to residue 2770 for RYR2.

RYR2	GWIYGEIYSDSSKVQPLMKPYKLLSEKEKE>I<YRWPIKESLKTMLAWGWRIERTREGDSMAL	2800
RYR1	NWSYGENIDEELKTHPMLRPYKTFSEKDKE>I<YRWPIKESLKAMIAWEWTIEKAREGEEEK-	2833
RYR3	GWKYGISLDENVKTHPLIRPFKTLTEKEKE>I<YRWPARESLKTMLAVGWTVERTKEGEALVQ	2697
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2770T	c.8309T>C	Unknown			SIFT: Polyphen:
Reports		Unknown		The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 2014 Aug;16(8):601-8. 24503780