Factor X Variant Database

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

c.1A>G

p.Met1Val (Legacy AA No. -40)

Variant Type:

Point

Domain:

Pre-pro leader

Location:

Exon 1

Variant Effect:

Missense

Codon Change:

A>G

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

31396

Allele Frequency *:

0.000032

Variant eliminates ATG start codon preventing the initiation of FX translation (FX Nice I).

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
1	12	F		4		7	Heterozygous	c.792C>T (p.Thr264=)c.1030C>T (p.Pro344Ser)	Asymptomatic	No history of bleeding. Related to pa_id: 2 & 3.	Miyata et al 1998
149	11	F	British		<1		Homozygous		Severe	History of severe bleeding.	Mitchell et al 2019
2		M		44		48	Heterozygous		Not Reported	Related to pa_id: 1.	Miyata et al 1998

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Met	-	acyclic	large	buried	hydrophobic	neutral
Mutated	Val	aliphatic	acyclic	medium	buried	hydrophobic	neutral

Grantham Score : 21

PolyPhen-2 Prediction : Possibly Damaging (SCORE: 0.956)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Neutral (SCORE: -1.297)

Met1 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