Factor IX Variant Database

c.1174A>G

p.Asn392Asp (346)

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1	22	63		Mild	II			-	Centre B39 (unpublished)
2	<1	100		Severe	II		USA	-	Weinmann et al (1998)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Asn	-	acycli	medium	hydrophilic	neutral
Mutated	Asp	acidi	acycli	medium	hydrophilic	negative

Structural Implications :

Asn392 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 6).

Asn392 is in a hydrogen bonded turn region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is T).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.1174A>G (p.Asn392Asp)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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