Factor IX Variant Database

c.478G>A

p.Gly160Arg (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	Country	Comments	Reference
1	-	-			-	United Kingdom	-	Giannelli et al (1996)
2	-	-			-	Germany	-	Wulff et al (1998)
3	<1	-		Severe	-	India	-	Mukherjee et al (2004)
4	-	-	Sporadic	Severe	-	Ireland	-	Jenkins et al (2008)
5	1.3	-		Moderate	-	China	-	Lu et al (2015)
6	1.6	-		Moderate	-	China	-	Lu et al (2015)
7	2.8	-		Moderate	-	China	-	Lu et al (2015)
8	2	-		Moderate	-	China	-	Wang et al (2013)
9	3	-		Moderate	-	China	-	Wang et al (2013)

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 :

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).

Hint: Left click mouse | To rotate the structure
Hint: Rotate mousewheel | To zoom in/out the structure
Hint: Right click mouse | to use applet control options

Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.478G>A (p.Gly160Arg)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

Display Options