Paralogue Annotation for RYR1 residue 3439

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3439
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3439

No paralogue variants have been mapped to residue 3439 for RYR1.

RYR1	YPLLIRYVDNNRAQWLTEPNPSAEELFRMV>G<EIFIYWSKSHNFKREEQNFVVQNEINNMSF	3469
RYR2	YPLLIRFVDYNRAKWLKEPNPEAEELFRMV>A<EVFIYWSKSHNFKREEQNFVVQNEINNMSF	3430
RYR3	YPMLIRYVDNNRSNWLKSPDADSDQLFRMV>A<EVFILWCKSHNFKREEQNFVIQNEINNLAF	3326
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G3439D	c.10316G>A	Putative Benign			SIFT: Polyphen: