Factor IX Variant Database

c.424G>A

p.Glu142Lys (96)

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	<1	-		Severe	-		United Kingdom	-	Enayat et al (2004)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Glu	acidi	acycli	large	hydrophilic	negative
Mutated	Lys	basic	acycli	large	hydrophilic	postive

Structural Implications :

Glu142 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 4).

Glu142 is in a bend region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is S).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.424G>A (p.Glu142Lys)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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