Paralogue Annotation for RYR2 residue 2803

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2803
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2803

No paralogue variants have been mapped to residue 2803 for RYR2.

RYR2	WPIKESLKTMLAWGWRIERTREGDSMALYN>R<TRRISQTSQV--SVDAAHGYSPRAIDMSNV	2831
RYR1	WPIKESLKAMIAWEWTIEKAREGEEEK--T>E<KKKTRKISQSAQTYDPREGYNPQPPDLSAV	2865
RYR3	WPARESLKTMLAVGWTVERTKEGEALVQQR>E<NEKLRSVSQA--NQ--GNSYSPAPLDLSNV	2726
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2803W	c.8407C>T	Putative Benign			SIFT: Polyphen:
p.R2803Q	c.8408G>A	Putative Benign			SIFT: Polyphen: