Factor IX Variant Database

c.373G>A

p.Gly125Arg (79)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

EGF1

Location:

Exon 4

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	-	-		Mild	-		China	-	Cao et al (2014)
2	-	-		Mild	-		China	-	Cao et al (2014)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Gly	aliph	acycli	small	hydrophobic	neutral
Mutated	Arg	basic	acycli	large	hydrophilic	postive

Structural Implications :

Gly125 is a buried residue (the surface accessibility from the modelled FIXa structure is 1).

Gly125 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.373G>A (p.Gly125Arg)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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