Factor IX Variant Database

c.1186T>C

p.Cys396Arg (350)

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	<1	<1		Severe	-		Germany	-	Wulff et al (1998)
2	<1	<1		Severe	-		Germany	-	Wulff et al (1999)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Cys	-	acycli	medium	hydrophilic	neutral
Mutated	Arg	basic	acycli	large	hydrophilic	postive

Structural Implications :

Cys396 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Cys396 is in a beta sheet region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is E).

The substitution involves a conserved cysteine residue that forms a disulphide bridge. Breakage of this disulphide bridge may have serious effects on the stability of the domain.

Cys396 is in a proposed disulphide bond site [Reference].

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.1186T>C (p.Cys396Arg)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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