Factor IX Variant Database

c.1279G>A

p.Gly427Arg (381)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Serine Protease

Location:

Exon 8

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	2	-		Moderate	-		Germany	-	Wulff et al (1998)
2	-	-			-			-	Centre B37 (unpublished)
3	-	-		Severe	-		Italy	-	Belvini et al (2005)
4	<1	-	Sporadic	Severe	-	NO	Argentina	-	Radic et al (2013)
5	-	-		Moderate	-	NO	USA	-	Miller et al (2012)
6	-	-		Moderate	-		USA	-	Li et al (2014)
7	1.4	-		Moderate	-	NO	China	-	Zhou et al (2015)

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 :

Gly427 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Gly427 is in a beta sheet region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is E).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.1279G>A (p.Gly427Arg)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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