Paralogue Annotation for RYR1 residue 1787

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1787
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1787

No paralogue variants have been mapped to residue 1787 for RYR1.

RYR1	HPRHGLPGVGVTTSLRPPHHFSPPCFVAAL>P<AAGAAEAPARLSPAIPLEALRDKALRMLGE	1817
RYR2	NKKHGLPGIGLSTSLRPRMQFSSPSFVSI->-<----SNECYQYSPEFPLDILKSKTIQMLTE	1797
RYR3	SKRHGLPGVGLRTCLKPGFRFSTPCFVVT->-<----GEDHQKQSPEIPLESLRTKALSMLTE	1701
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1787L	c.5360C>T	Benign		rs34934920	SIFT: Polyphen: benign