Factor X Variant Database

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c.44C>A

p.Ala15Asp (Legacy AA No. -26)

Variant Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Variant Effect:

Missense

Codon Change:

C>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

247586

Allele Frequency *:

0.000004

Variant likely damages protein function.

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
10	9	F	Indian	<1	<1	Heterozygous	Undefined cDNA (G299=) (p.Gly299=)	Mild	Echymosis, gum bleeds.	Mota et al 2010
30	4	F	Pakistani	<2		Homozygous		Severe	Umbilical cord bleed, hemarthrosis.	Borhany et al 2018
7	12	M	Indian	<1	<1	Homozygous	Undefined cDNA (G299=) (p.Gly299=)	Severe	Hemarthrosis.	Mota et al 2010
8	7	M	Indian	<1	<1	Homozygous	Undefined cDNA (G299=) (p.Gly299=)	Severe	Hemarthrosis.	Mota et al 2010

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Ala	aliphatic	acyclic	small	buried	hydrophobic	neutral
Mutated	Asp	acidic	acyclic	medium	surface	hydrophilic	negative

Grantham Score : 126

PolyPhen-2 Prediction : Possibly Damaging (SCORE: 0.718)

SIFT Prediction : Tolerated (SCORE: 0.40)

PROVEAN Prediction : Neutral (SCORE: -1.929)

Ala15 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