Paralogue Annotation for RYR2 residue 1719

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1719
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1719

No paralogue variants have been mapped to residue 1719 for RYR2.

RYR2	IENKYMPGLLRAGYYDLLIDIHLSSYATAR>L<MMNNEYIVPMTEETKSITLFPD------EN	1743
RYR1	LEDAHLPGPLRAGYYDLLISIHLESACRSR>R<SMLSEYIVPLTPETRAITLFPPGRSTENGH	1757
RYR3	IDNKYLPGLLRSGFYDLLISIHLASAKERK>L<MMKNEYIIPITSTTRNIRLFPD------ES	1647
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1719F	c.5155C>T	Putative Benign			SIFT: Polyphen: