Paralogue Annotation for RYR2 residue 1664

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1664
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1664

No paralogue variants have been mapped to residue 1664 for RYR2.

RYR2	EENRSVDILELTEQEELLKFHYHTLRLYSA>V<CALGNHRVAHALCSHVDEPQLLYAIENKYM	1694
RYR1	EENRCMDILELSERLDLQRFHSHTLRLYRA>V<CALGNNRVAHALCSHVDQAQLLHALEDAHL	1702
RYR3	EENRCVDILELCEQEDLMRFHYHTLRLYSA>V<CALGNSRVAYALCSHVDLSQLFYAIDNKYL	1598
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1664I	c.4990G>A	Putative Benign			SIFT: Polyphen:
p.V1664F	c.4990G>T	Putative Benign			SIFT: Polyphen:
p.Val1664Asp	c.4991T>A	Unknown			SIFT: Polyphen: