Paralogue Annotation for RYR2 residue 1978

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1978
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1978

No paralogue variants have been mapped to residue 1978 for RYR2.

RYR2	MQALNMSAALTARKTKEFRSPPQEQINMLL>N<FKD--DKSECPCPEEIRDQLLDFHEDLMTH	2006
RYR1	IKAFSMTAAETARRTREFRSPPQEQINMLL>Q<FKDGTDEEDCPLPEEIRQDLLDFHQDLLAH	2041
RYR3	MQALNMSAALTARKTKEFRSPPQEQINMLL>N<FQL--GE-NCPCPEEIREELYDFHEDLLLH	1906
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1978S	c.5933A>G	Putative Benign			SIFT: Polyphen: