Paralogue Annotation for RYR2 residue 1718

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1718
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1718

No paralogue variants have been mapped to residue 1718 for RYR2.

RYR2	AIENKYMPGLLRAGYYDLLIDIHLSSYATA>R<LMMNNEYIVPMTEETKSITLFPD------E	1742
RYR1	ALEDAHLPGPLRAGYYDLLISIHLESACRS>R<RSMLSEYIVPLTPETRAITLFPPGRSTENG	1756
RYR3	AIDNKYLPGLLRSGFYDLLISIHLASAKER>K<LMMKNEYIIPITSTTRNIRLFPD------E	1646
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1718S	c.5154G>C	Putative Benign			SIFT: Polyphen:
p.R1718S	c.5154G>T	Putative Benign			SIFT: Polyphen: