Paralogue Annotation for RYR2 residue 4082

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4082
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4082

No paralogue variants have been mapped to residue 4082 for RYR2.

RYR2	MESHKHYTQSETEFLLSCAETDENETLDYE>E<FVKRFHEPAKDIGFNVAVLLTNLSEHMPND	4112
RYR1	MDSQKQFSGPEIQFLLSCSEADENEMINCE>E<FANRFQEPARDIGFNVAVLLTNLSEHVPHD	4156
RYR3	MEGQKQYTQSEIDFLLSCAEADENDMFNYV>D<FVDRFHEPAKDIGFNVAVLLTNLSEHMPND	4008
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4082K	c.12244G>A	Putative Benign			SIFT: Polyphen: