Paralogue Annotation for RYR2 residue 1000

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1000
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1000

No paralogue variants have been mapped to residue 1000 for RYR2.

RYR2	YQLTSGYKPAPMDLSFIKLTPSQEAMVDKL>A<ENAHNVWARDRIRQGWTYGIQQDVKNRRNP	1030
RYR1	YMMSNGYKPAPLDLSHVRLTPAQTTLVDRL>A<ENGHNVWARDRVGQGWSYSAVQDIPARRNP	1018
RYR3	YMMSNGYKPAPLDLSDVKLLPPQEILVDKL>A<ENAHNVWAKDRIKQGWTYGIQQDLKNKRNP	1017
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1000S	c.2998G>T	Putative Benign			SIFT: Polyphen: