Factor IX Variant Database

c.887T>A

p.Val296Glu (250)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Serine Protease

Location:

Exon 8

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	-		Italy	-	Belvini et al (2005)
2	<1	-		Severe	-		United Kingdom	-	Saad et al (1994)

Residue Information :

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

Structural Implications :

Val296 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Val296 is in a beta sheet region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is E).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.887T>A (p.Val296Glu)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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