Paralogue Annotation for RYR2 residue 993

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 993
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 993

No paralogue variants have been mapped to residue 993 for RYR2.

RYR2	KMKLPKNYQLTSGYKPAPMDLSFIKLTPSQ>E<AMVDKLAENAHNVWARDRIRQGWTYGIQQD	1023
RYR1	KTKLPKTYMMSNGYKPAPLDLSHVRLTPAQ>T<TLVDRLAENGHNVWARDRVGQGWSYSAVQD	1011
RYR3	KVKLPKNYMMSNGYKPAPLDLSDVKLLPPQ>E<ILVDKLAENAHNVWAKDRIKQGWTYGIQQD	1010
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E993G	c.2978A>G	Putative Benign			SIFT: Polyphen: