Factor X Variant Database

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c.33T>G

p.Ser11Arg (Legacy AA No. -30)

Variant Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Variant Effect:

Missense

Codon Change:

T>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant prevents translocation of FX to ER and the subsequent PTM (FX Shanghai). Legacy cDNA numbering in Wang paper - Leytus et al 1986 (c.58T>G)

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
20	52	M	Chinese	2.6	8.2	Homozygous	Severe	Bleeding after trauma. Related to pa_id: 21,22 & 23.	Wang et al 2005
21		F	Chinese	49.9	53.4	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id 20, 22 & 23.	Wang et al 2005
22		M	Chinese	71.2	75.8	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 20, 21 & 23.	Wang et al 2005
23		M	Chinese	69.8	72	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 20, 21 & 22.	Wang et al 2005

Residue Information:

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

Grantham Score : 110

PolyPhen-2 Prediction : Possibly Damaging (SCORE: 0.697)

SIFT Prediction : Tolerated (SCORE: 0.35)

PROVEAN Prediction : Neutral (SCORE: -0.688)

Ser11 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