Factor IX Variant Database

c.400T>C

p.Cys134Arg (88)

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(%)	Severity	Type	Inhibitors	Country	Comments	Reference
1	<1	24	Severe	II		Germany	-	Wulff et al (1999)
2	-	-		-			-	Centre B2 (unpublished)
3	<1	-	Severe	-			-	Centre B37 (unpublished)
4	<1	-	Severe	-		United Kingdom	-	Saad et al (1994)
5	<1	-	Severe	-			-	Centre B14 (unpublished)
6	<1	14	Severe	II			-	Centre B26 (unpublished)
7	<1	-	Severe	-			-	Centre B24 (unpublished)
8	<1	-	Severe	-		Germany	-	Wulff et al (1998)
9	0	-	Severe	-	NO	Italy	-	Belvini et al (2005)
10	-	-		-		China	-	Liu et al (2013)
11	-	-	Severe	-		Brazil	-	Meireles et al (2017)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Cys	-	acycli	medium	hydrophilic	neutral
Mutated	Arg	basic	acycli	large	hydrophilic	postive

Structural Implications :

Cys134 is a buried residue (the surface accessibility from the modelled FIXa structure is 1).

Cys134 is in a hydrogen bonded turn region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is T).

The substitution involves a conserved cysteine residue that forms a disulphide bridge. Breakage of this disulphide bridge may have serious effects on the stability of the domain.

Cys134 is in a proposed disulphide bond site [Reference].

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.400T>C (p.Cys134Arg)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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