Paralogue Annotation for RYR1 residue 1770

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1770
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1770

No paralogue variants have been mapped to residue 1770 for RYR1.

RYR1	ETRAITLFPPGRSTENGHPRHGLPGVGVTT>S<LRPPHHFSPPCFVAALPAAGAAEAPARLSP	1800
RYR2	ETKSITLFPD------ENKKHGLPGIGLST>S<LRPRMQFSSPSFVSI------SNECYQYSP	1780
RYR3	TTRNIRLFPD------ESKRHGLPGVGLRT>C<LKPGFRFSTPCFVVT------GEDHQKQSP	1684
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1770A	c.5308T>G	Putative Benign			SIFT: tolerated Polyphen: benign
p.Ser1770Leu	c.5309C>T	Unknown			SIFT: Polyphen: