Factor X Variant Database

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

Undefined cDNA (A12P)

p.Ala12Pro (Legacy AA No. -29)

Variant Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Variant Effect:

Missense

Codon Change:

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant impairs FX secretion.

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
25	71	M		7.4		9.5		Heterozygous	Undefined cDNA (F364L) (p.Phe364Leu)	Mild	Scrotal hematoma, hematuria, intramuscular hematoma. Related to pa_id: 28 & 29.	Liang et al 2013
28		F		55.9		54.7		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 25 & 29.	Liang et al 2013

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Ala	aliphatic	acyclic	small	buried	hydrophobic	neutral
Mutated	Pro	-	cyclic	medium	surface	hydrophobic	neutral

Grantham Score : 27

PolyPhen-2 Prediction : Possibly Damaging (SCORE: 0.769)

SIFT Prediction : Tolerated (SCORE: 0.08)

PROVEAN Prediction : Neutral (SCORE: -1.128)

Ala12 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.

NOTE: If no Java applet appears or a Java error message is shown, please click the following LINK.

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Factor X Variant Database