Paralogue Annotation for RYR1 residue 17

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 17
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 17

No paralogue variants have been mapped to residue 17 for RYR1.

RYR1	MGD-AE-GEDEVQFLRTD>D<EVVLQCSATVLKEQLKLCLAAEGFGNRLCF	47
RYR2	MADGGE-GEDEIQFLRTD>D<EVVLQCTATIHKEQQKLCLAAEGFGNRLCF	48
RYR3	MAEGGEGGEDEIQFLRTE>D<EVVLQCIATIHKEQRKFCLAAEGLGNRLCF	49
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D17N	c.49G>A	Putative Benign			SIFT: Polyphen: