Paralogue Annotation for RYR1 residue 3817

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3817
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3817

No paralogue variants have been mapped to residue 3817 for RYR1.

RYR1	GETGAMVSSTLKLGISILNGGNAEVQQKML>D<YLKDKKEVGFFQSIQALMQTCSVLDLNAFE	3847
RYR2	GETGPMVAATLKLGIAILNGGNSTVQQKML>D<YLKEKKDVGFFQSLAGLMQSCSVLDLNAFE	3809
RYR3	GEMSPMVVETLKLGIAILNGGNAGVQQKML>D<YLKEKKDAGFFQSLSGLMQSCSVLDLNAFE	3699
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3817V	c.11450A>T	Putative Benign		rs372491219	SIFT: tolerated Polyphen: benign
p.D3817G	c.11450A>G	Putative Benign			SIFT: Polyphen: