Factor IX Variant Database

c.172G>A

p.Gly58Arg (12)

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(%)	Severity	Type	Country	Comments	Reference
1	<1	48	Severe	II	United Kingdom	-	Giannelli et al (1993)
2	13	44	Mild	II	USA	-	Gostout et al (1993)
3	-	-	Moderate	-	USA	-	Li 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 :

Gly58 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 4).

Gly58 is in a random coil region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is C).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.172G>A (p.Gly58Arg)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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