Paralogue Annotation for RYR2 residue 4071

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4071
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4071

No paralogue variants have been mapped to residue 4071 for RYR2.

RYR2	GVISKRDFHKAMESHKHYTQSETEFLLSCA>E<TDENETLDYEEFVKRFHEPAKDIGFNVAVL	4101
RYR1	GLISKKDFQKAMDSQKQFSGPEIQFLLSCS>E<ADENEMINCEEFANRFQEPARDIGFNVAVL	4145
RYR3	GIISKKEFQKAMEGQKQYTQSEIDFLLSCA>E<ADENDMFNYVDFVDRFHEPAKDIGFNVAVL	3997
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4071K	c.12211G>A	Putative Benign			SIFT: Polyphen: