Factor IX Variant Database

c.162G>C

p.Glu54Asp (8)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Gla

Location:

Exon 2

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	-		India	-	Jayandharan et al (2005)
2	<1	100		Severe	II		Germany	-	Wulff et al (1999)
3	-	-	Familial	Severe	-	NO	China	-	Yu et al (2012)
4	<1	104		Severe	II		China	-	Guo et al (2014)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Glu	acidi	acycli	large	hydrophilic	negative
Mutated	Asp	acidi	acycli	medium	hydrophilic	negative

Structural Implications :

Glu54 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 3).

Glu54 is in a bend region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is S).

The substitution involves a Gamma carboxy glutamic acid(CGU) residue in the Gla domain.

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.162G>C (p.Glu54Asp)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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