Factor X Variant Database

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c.119G>C

p.Arg40Thr (Legacy AA No. -1)

Variant Type:

Point

Domain:

Pre-pro leader

Location:

Exon 2

Variant Effect:

Missense

Codon Change:

G>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant interferes with FX cleavage by signal peptidase, resulting in production of dysfunctional FX

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
76	22	F	Iranian	<1	66	Homozygous	Severe	Hemarthrosis, hematomas, umbilical cord bleeding. Related to pa_id: 77.	Peyvandi et al 2002
77	7	F	Iranian	<1	43	Homozygous	Severe	Hemarthrosis, hematomas, umbilical cord bleeding. Related to pa_id: 76.	Peyvandi et al 2002
78	28	M	Iranian	3	59	Homozygous	Severe	Hemarthrosis, hematomas, umbilical cord bleeding.	Peyvandi et al 2002
79	5	F	Iranian	7	57	Homozygous	Severe	Hemarthrosis, hematomas, umbilical cord bleeding.	Peyvandi et al 2002
95	6	F	Iranian	0.8		-	Severe	Epistaxis, gum bleeding.	Karimi et al 2012
96	11	F	Iranian	0.7		-	Severe	Epistaxis, hematuria, gum bleeding, intracranial hemorrhage.	Karimi et al 2012

Residue Information:

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

Grantham Score : 71

PolyPhen-2 Prediction : Probably Damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -5.250)

Arg40 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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Factor X Variant Database