In Depth Mutation Analysis: c.533G>T (p.Cys178Phe)

c.533G>T

p.Cys178Phe (132)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Linker

Location:

Exon 6

No. of bases:

CpG:

Comments:

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Country	Comments	Reference
1	<1	-	Severe	-		-	Centre B19 (unpublished)
2	<1	-	Severe	-		-	Centre B22 (unpublished)
3	<1	<1	Severe	-	United Kingdom	-	Green et al (1991)
4	<1	-	Severe	-	Sweden	-	Halldén et al (2013)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Cys	-	acycli	medium	hydrophilic	neutral
Mutated	Phe	aroma	cyclic	large	hydrophobic	neutral

Structural Implications :

Structural analysis is restricted to the mature protein. No structural information is available for this residue because it is not present in the active FIXa molecule model that has been constructed.

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.

Cys178 is in a proposed disulphide bond site [Reference].

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Factor IX Variant Database

Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.533G>T (p.Cys178Phe)

Patient Information : Show

Residue Information :

Structural Implications :