Paralogue Annotation for RYR1 residue 3809

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3809
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3809

No paralogue variants have been mapped to residue 3809 for RYR1.

RYR1	LQMISACKGETGAMVSSTLKLGISILNGGN>A<EVQQKMLDYLKDKKEVGFFQSIQALMQTCS	3839
RYR2	LQTISASKGETGPMVAATLKLGIAILNGGN>S<TVQQKMLDYLKEKKDVGFFQSLAGLMQSCS	3801
RYR3	LQMISASKGEMSPMVVETLKLGIAILNGGN>A<GVQQKMLDYLKEKKDAGFFQSLSGLMQSCS	3691
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3809V	c.11426C>T	Putative Benign			SIFT: Polyphen: