Factor X Variant Database

Terms with a '*' next to them are explained on the Help Page .

c.22G>T

p.Val8Phe (Legacy AA No. -33)

Variant Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Variant Effect:

Missense

Codon Change:

G>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant likely damages protein function.

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
17	40	F	Indian	<1		6		Heterozygous		Severe	Menorrhagia, bad obstetric history.	Mota et al 2010
19	10	F	Indian	<1				Heterozygous	c.792C>T (p.Thr264=)c.1066C>T (p.Gln356*)	Severe	Hemarthrosis, spontaneous bleeds.	Mota et al 2010

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Val	aliphatic	acyclic	medium	buried	hydrophobic	neutral
Mutated	Phe	aromatic	cyclic	large	buried	hydrophobic	neutral

Grantham Score : 50

PolyPhen-2 Prediction : Benign (SCORE: 0.013)

SIFT Prediction : Tolerated (SCORE: 0.06)

PROVEAN Prediction : Neutral (SCORE: -0.952)

Val8 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