Paralogue Annotation for RYR2 residue 1982

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1982
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1982

No paralogue variants have been mapped to residue 1982 for RYR2.

RYR2	SAALTARKTKEFRSPPQEQINMLLNFKD-->D<KSECPCPEEIRDQLLDFHEDLMTHCGIELD	2012
RYR1	TAAETARRTREFRSPPQEQINMLLQFKDGT>D<EEDCPLPEEIRQDLLDFHQDLLAHCGIQLD	2047
RYR3	SAALTARKTKEFRSPPQEQINMLLNFQL-->G<E-NCPCPEEIREELYDFHEDLLLHCGVPLE	1912
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1982H	c.5944G>C	Putative Benign			SIFT: Polyphen: