Paralogue Annotation for RYR1 residue 1784

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1784
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1784

No paralogue variants have been mapped to residue 1784 for RYR1.

RYR1	ENGHPRHGLPGVGVTTSLRPPHHFSPPCFV>A<ALPAAGAAEAPARLSPAIPLEALRDKALRM	1814
RYR2	--ENKKHGLPGIGLSTSLRPRMQFSSPSFV>S<I------SNECYQYSPEFPLDILKSKTIQM	1794
RYR3	--ESKRHGLPGVGLRTCLKPGFRFSTPCFV>V<T------GEDHQKQSPEIPLESLRTKALSM	1698
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1784D	c.5351C>A	Putative Benign			SIFT: tolerated Polyphen: benign