Paralogue Annotation for RYR2 residue 1803

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1803
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1803

No paralogue variants have been mapped to residue 1803 for RYR2.

RYR2	NECYQYSPEFPLDILKSKTIQMLTEAVKEG>S<LHARDPVGGTTEFLFVPLIKLFYTLLIMGI	1833
RYR1	EAPARLSPAIPLEALRDKALRMLGEAVRDG>G<QHARDPVGGSVEFQFVPVLKLVSTLLVMGI	1853
RYR3	EDHQKQSPEIPLESLRTKALSMLTEAVQCS>G<AHIRDPVGGSVEFQFVPVLKLIGTLLVMGV	1737
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1803C	c.5407A>T	Putative Benign			SIFT: Polyphen:
p.S1803I	c.5408G>T	Putative Benign			SIFT: Polyphen: