Factor IX Variant Database

c.950C>A

p.Ala317Asp (271)

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	-		Severe	-		Germany	-	Wulff et al (1998)
2	1.5	-		Moderate	-		Russia	-	Surin et al (2016)

Residue Information :

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

Structural Implications :

Ala317 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Ala317 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.950C>A (p.Ala317Asp)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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