Factor IX Variant Database

c.189A>C

p.Glu63Asp (17)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Gla

Location:

Exon 2

No. of bases:

CpG:

Comments:

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-			-		USA	-	Johnsen et al (2017)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Glu	acidi	acycli	large	hydrophilic	negative
Mutated	Asp	acidi	acycli	medium	hydrophilic	negative

Structural Implications :

Glu63 is a buried residue (the surface accessibility from the modelled FIXa structure is 1).

Glu63 is in a pi helix region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is I).

The substitution involves a Gamma carboxy glutamic acid(CGU) residue in the Gla domain.

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.189A>C (p.Glu63Asp)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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