Paralogue Annotation for RYR1 residue 3073

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3073
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3073

No paralogue variants have been mapped to residue 3073 for RYR1.

RYR1	FCKLAALVRHRVSLFGTDAPAVVNCLHILA>R<SLDARTVMKSGPEIVKAGLRSFFESASEDI	3103
RYR2	FCKLGVLVRHRISLFGNDATSIVNCLHILG>Q<TLDARTVMKTGLESVKSALRAFLDNAAEDL	3068
RYR3	FCKLAALVRHRISLFGSDSTTMVSCLHILA>Q<TLDTRTVMKSGSELVKAGLRAFFENAAEDL	2964
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3073C	c.9217C>T	Putative Benign			SIFT: Polyphen:
p.R3073H	c.9218G>A	Putative Benign			SIFT: Polyphen: