Paralogue Annotation for RYR1 residue 2653

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2653
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2653

No paralogue variants have been mapped to residue 2653 for RYR1.

RYR1	LRRLVFDVPILNEFAKMPLKLLTNHYERCW>K<YYCLPTGWANFGVTSEEELHLTRKLFWGIF	2683
RYR2	LRRLVFDVPLLNEHAKMPLKLLTNHYERCW>K<YYCLPGGWGNFGAASEEELHLSRKLFWGIF	2649
RYR3	LRRLVFDVPQLNEYCKMPLKLLTNHYEQCW>K<YYCLPSGWGSYGLAVEEELHLTEKLFWGIF	2546
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2653R	c.7958A>G	Putative Benign		rs199864636	SIFT: Polyphen: benign