Paralogue Annotation for RYR1 residue 3779

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3779
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3779

No paralogue variants have been mapped to residue 3779 for RYR1.

RYR1	EVSFEEKQMEKQRLLYQQARLHTRGAAEMV>L<QMISACKGETGAMVSSTLKLGISILNGGNA	3809
RYR2	VKSFEEKEMEKQKLLYQQARLHDRGAAEMV>L<QTISASKGETGPMVAATLKLGIAILNGGNS	3771
RYR3	EKTFEEKEMEKQKTLYQQARLHERGAAEMV>L<QMISASKGEMSPMVVETLKLGIAILNGGNA	3661
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3779Q	c.11336T>A	Putative Benign		rs376480614	SIFT: deleterious Polyphen: benign