Paralogue Annotation for RYR2 residue 4056

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4056
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4056

No paralogue variants have been mapped to residue 4056 for RYR2.

RYR2	LTSSDTFKEYDPDGKGVISKRDFHKAMESH>K<HYTQSETEFLLSCAETDENETLDYEEFVKR	4086
RYR1	IVGSEAFQDYVTDPRGLISKKDFQKAMDSQ>K<QFSGPEIQFLLSCSEADENEMINCEEFANR	4130
RYR3	LTSSDTFKEYDPDGKGIISKKEFQKAMEGQ>K<QYTQSEIDFLLSCAEADENDMFNYVDFVDR	3982
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K4056R	c.12167A>G	Putative Benign			SIFT: Polyphen: