Factor IX Variant Database

c.392A>C

p.Asp131Ala (85)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

EGF2

Location:

Exon 5

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	-	-			-		USA	-	Johnsen et al (2017)

Residue Information :

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

Structural Implications :

Asp131 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 2).

Asp131 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.392A>C (p.Asp131Ala)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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