Paralogue Annotation for RYR1 residue 2688

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2688
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2688

No paralogue variants have been mapped to residue 2688 for RYR1.

RYR1	PTGWANFGVTSEEELHLTRKLFWGIFDSLA>H<KKYDPELYRMAMPCLCAIAGALPPDYVDAS	2718
RYR2	PGGWGNFGAASEEELHLSRKLFWGIFDALS>Q<KKYEQELFKLALPCLSAVAGALPPDYMESN	2684
RYR3	PSGWGSYGLAVEEELHLTEKLFWGIFDSLS>H<KKYDPDLFRMALPCLSAIAGALPPDYLDTR	2581
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2688R	c.8063A>G	Putative Benign			SIFT: Polyphen: