Paralogue Annotation for RYR1 residue 3149

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3149
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3149

No paralogue variants have been mapped to residue 3149 for RYR1.

RYR1	RTQVKGVGQNLTYTTVALLPVLTTLFQHIA>Q<HQFGDDVILDDVQVSCYRTLCSIYSLGTTK	3179
RYR2	RNQPKGVTQIINYTTVALLPMLSSLFEHIG>Q<HQFGEDLILEDVQVSCYRILTSLYALGTSK	3144
RYR3	RTQIKGVSQNINYTTVALLPILTSIFEHVT>Q<HQFGMDLLLGDVQISCYHILCSLYSLGTGK	3040
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q3149R	c.9446A>G	Putative Benign			SIFT: Polyphen: