Factor VII Variant Database

c.1194C>G

p.Asp398Glu (Legacy AA No. 338)

Mutation Type:

Point

Domain:

Serine Protease

Codon Change:

GAG > GAC

Mutation Effect:

Missense

Location:

Exon(9)

No of bases:

No. of patients reported:

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Inheritance	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
700	<1			95	Homozygous	-	Mild		Mota et al 2009

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Asp	acidic	acyclic	medium	hydrophilic	negative
Mutated	-	-	-	-	-	-

Substitution Analysis :

Structural Implications :

Asp398 is shown below as a red sphere.

Asp398 is a buried residue(the surface accessibility from the FVII structure is 0).

Asp398is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is B).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.1194C>G (p.Asp398Glu)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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