Paralogue Annotation for RYR1 residue 3780

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3780
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3780

No paralogue variants have been mapped to residue 3780 for RYR1.

RYR1	VSFEEKQMEKQRLLYQQARLHTRGAAEMVL>Q<MISACKGETGAMVSSTLKLGISILNGGNAE	3810
RYR2	KSFEEKEMEKQKLLYQQARLHDRGAAEMVL>Q<TISASKGETGPMVAATLKLGIAILNGGNST	3772
RYR3	KTFEEKEMEKQKTLYQQARLHERGAAEMVL>Q<MISASKGEMSPMVVETLKLGIAILNGGNAG	3662
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q3780H	c.11340G>C	Putative Benign			SIFT: Polyphen: