Paralogue Annotation for RYR1 residue 3160

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3160
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3160

No paralogue variants have been mapped to residue 3160 for RYR1.

RYR1	TYTTVALLPVLTTLFQHIAQHQFGDDVILD>D<VQVSCYRTLCSIYSLGTTKNTYVEKLRPAL	3190
RYR2	NYTTVALLPMLSSLFEHIGQHQFGEDLILE>D<VQVSCYRILTSLYALGTSKSIYVERQRSAL	3155
RYR3	NYTTVALLPILTSIFEHVTQHQFGMDLLLG>D<VQISCYHILCSLYSLGTGKNIYVERQRPAL	3051
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3160N	c.9478G>A	Putative Benign		rs377561682	SIFT: tolerated Polyphen: benign