Paralogue Annotation for RYR2 residue 1768

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1768
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1768

No paralogue variants have been mapped to residue 1768 for RYR2.

RYR2	----ENKKHGLPGIGLSTSLRPRMQFSSPS>F<VSI------SNECYQYSPEFPLDILKSKTI	1792
RYR1	STENGHPRHGLPGVGVTTSLRPPHHFSPPC>F<VAALPAAGAAEAPARLSPAIPLEALRDKAL	1812
RYR3	----ESKRHGLPGVGLRTCLKPGFRFSTPC>F<VVT------GEDHQKQSPEIPLESLRTKAL	1696
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F1768L	c.5302T>C	Putative Benign			SIFT: Polyphen: