Paralogue Annotation for RYR2 residue 1779

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1779
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1779

No paralogue variants have been mapped to residue 1779 for RYR2.

RYR2	TSLRPRMQFSSPSFVSI------SNECYQY>S<PEFPLDILKSKTIQMLTEAVKEGSLHARDP	1809
RYR1	TSLRPPHHFSPPCFVAALPAAGAAEAPARL>S<PAIPLEALRDKALRMLGEAVRDGGQHARDP	1829
RYR3	TCLKPGFRFSTPCFVVT------GEDHQKQ>S<PEIPLESLRTKALSMLTEAVQCSGAHIRDP	1713
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1779N	c.5336G>A	Putative Benign			SIFT: Polyphen: