Paralogue Annotation for RYR2 residue 4070

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4070
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4070

No paralogue variants have been mapped to residue 4070 for RYR2.

RYR2	KGVISKRDFHKAMESHKHYTQSETEFLLSC>A<ETDENETLDYEEFVKRFHEPAKDIGFNVAV	4100
RYR1	RGLISKKDFQKAMDSQKQFSGPEIQFLLSC>S<EADENEMINCEEFANRFQEPARDIGFNVAV	4144
RYR3	KGIISKKEFQKAMEGQKQYTQSEIDFLLSC>A<EADENDMFNYVDFVDRFHEPAKDIGFNVAV	3996
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4070V	c.12209C>T	Putative Benign			SIFT: Polyphen:
p.A4070E	c.12209C>A	Putative Benign			SIFT: Polyphen: