Paralogue Annotation for RYR2 residue 1974

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1974
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1974

No paralogue variants have been mapped to residue 1974 for RYR2.

RYR2	YNEVMQALNMSAALTARKTKEFRSPPQEQI>N<MLLNFKD--DKSECPCPEEIRDQLLDFHED	2002
RYR1	YGLLIKAFSMTAAETARRTREFRSPPQEQI>N<MLLQFKDGTDEEDCPLPEEIRQDLLDFHQD	2037
RYR3	YNELMQALNMSAALTARKTKEFRSPPQEQI>N<MLLNFQL--GE-NCPCPEEIREELYDFHED	1902
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1974H	c.5920A>C	Putative Benign			SIFT: tolerated Polyphen: benign