Paralogue Annotation for RYR2 residue 1973

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1973
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1973

No paralogue variants have been mapped to residue 1973 for RYR2.

RYR2	RYNEVMQALNMSAALTARKTKEFRSPPQEQ>I<NMLLNFKD--DKSECPCPEEIRDQLLDFHE	2001
RYR1	RYGLLIKAFSMTAAETARRTREFRSPPQEQ>I<NMLLQFKDGTDEEDCPLPEEIRQDLLDFHQ	2036
RYR3	RYNELMQALNMSAALTARKTKEFRSPPQEQ>I<NMLLNFQL--GE-NCPCPEEIREELYDFHE	1901
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1973V	c.5917A>G	Putative Benign			SIFT: Polyphen: