Factor X Variant Database

In-Depth Variant Analysis: c.535C>A (p.Arg179Ser)

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c.535C>A

p.Arg179Ser (Legacy AA No. 139)

Variant Type:

Point

Domain:

Linker

Location:

Exon 6

Variant Effect:

Missense

Codon Change:

C>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Variant prevents FX proteolytic cleavage (as protease requires Arg at residue 179 for recognition), preventing standard FX processing. In addition, variant disrupts FX interactions with FVa and FVIIIa (FX Kurayoshi). Legacy cDNA numbering in paper - Leytus et al 1986 (c.560C>A)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
223	71	M		27		72		Homozygous		Not Reported	Severe bleeding following fracture of humerus. Related to pa_id: 224.	Iijima et al 2001
224		M		64		95		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id:223.	Iijima et al 2001

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	surface	hydrophilic	postive
Mutated	Ser	-	acyclic	small	surface	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 110

PolyPhen-2 Prediction : Possibly Damaging (SCORE: 0.511)

SIFT Prediction : Probably Damaging (SCORE: 0.04)

PROVEAN Prediction : Neutral (SCORE: -1.759)

Structural Implications:

Arg179 is in a region on the surface of the FX structure that is undefined. Hence the FX structure and its JMOL applet are not shown below.

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