Factor IX Variant Database

c.479G>C

p.Gly160Ala (114)

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1	13	5		Mild	I			-	Centre B29 (unpublished)
2	5	4		Moderate	I		United Kingdom	-	Winship and Dragon (1991)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Gly	aliph	acycli	small	hydrophobic	neutral
Mutated	Ala	aliph	acycli	small	hydrophobic	neutral

Structural Implications :

Gly160 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 7).

Gly160 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.479G>C (p.Gly160Ala)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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