Factor IX Variant Database

c.1069G>A

p.Gly357Arg (311)

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(%)	Severity	Type	Country	Comments	Reference
1	2	100	Moderate	II	USA	-	Bottema et al (1991)
2	<1	-	Severe	-	Germany	-	Wulff et al (1998)
3	<1	-	Severe	-	Germany	-	Wulff et al (1998)
4	<1	-	Severe	-	France	-	Costa et al (2000)
5	<1	118	Severe	II	Germany	-	Wulff et al (1999)
6	3	-	Moderate	-	USA	-	Koeberl et al (1989)
7	-	-		-	China	-	Huang et al (2020)

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 :

Gly357 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Gly357 is in a random coil region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is C).

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.1069G>A (p.Gly357Arg)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

Display Options