Paralogue Annotation for RYR1 residue 4730

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4730
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4730

No paralogue variants have been mapped to residue 4730 for RYR1.

RYR1	GQWDRLVLNTPSFPSNYWDKFVKRKVLDKH>G<DIYGRERIAELLGMDLATLEITAHNER-KP	4759
RYR2	GQWDRLVINTQSFPNNYWDKFVKRKVMDKY>G<EFYGRDRISELLGMDKAALDFSDAREKKKP	4688
RYR3	GQWDRLVINTPSFPNNYWDKFVKRKVINKY>G<DLYGAERIAELLGLDKNALDFSPVEET-KA	4592
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4730V	c.14189G>T	Putative Benign			SIFT: Polyphen: