Paralogue Annotation for RYR2 residue 4123

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4123
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4123

No paralogue variants have been mapped to residue 4123 for RYR2.

RYR2	DIGFNVAVLLTNLSEHMPNDTRLQTFLELA>E<SVLNYFQPFLGRIEIMGSAKRIERVYFEIS	4153
RYR1	DIGFNVAVLLTNLSEHVPHDPRLHNFLELA>E<SILEYFRPYLGRIEIMGASRRIERIYFEIS	4197
RYR3	DIGFNVAVLLTNLSEHMPNDSRLKCLLDPA>E<SVLNYFEPYLGRIEIMGGAKKIERVYFEIS	4049
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4123D	c.12369G>C	Putative Benign			SIFT: Polyphen: