Factor IX Variant Database

c.227A>C

p.Glu76Ala (30)

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	-	-		Severe	-		Canada	-	Rydz et al (2013)
2	-	-		Severe	-		Canada	-	Rydz et al (2013)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Glu	acidi	acycli	large	hydrophilic	negative
Mutated	Ala	aliph	acycli	small	hydrophobic	neutral

Structural Implications :

Glu76 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 5).

Glu76 is in a alpha helix region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is H).

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.227A>C (p.Glu76Ala)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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