Paralogue Annotation for RYR2 residue 4073

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4073
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4073

No paralogue variants have been mapped to residue 4073 for RYR2.

RYR2	ISKRDFHKAMESHKHYTQSETEFLLSCAET>D<ENETLDYEEFVKRFHEPAKDIGFNVAVLLT	4103
RYR1	ISKKDFQKAMDSQKQFSGPEIQFLLSCSEA>D<ENEMINCEEFANRFQEPARDIGFNVAVLLT	4147
RYR3	ISKKEFQKAMEGQKQYTQSEIDFLLSCAEA>D<ENDMFNYVDFVDRFHEPAKDIGFNVAVLLT	3999
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4073N	c.12217G>A	Putative Benign			SIFT: Polyphen:
p.D4073G	c.12218A>G	Putative Benign			SIFT: Polyphen: