Factor VII Variant Database

c.1030T>C

p.Trp344Arg (Legacy AA No. 284)

Mutation Type:

Point

Domain:

Serine Protease

Codon Change:

CGG > TGG

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
708	2.8			65	Heterozygous	-	Mild		Mota et al 2009

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Trp	aromatic	cyclic	large	hydrophobic	neutral
Mutated	-	-	-	-	-	-

Substitution Analysis :

Structural Implications :

Trp344 is shown below as a red sphere.

Trp344 is a buried residue(the surface accessibility from the FVII structure is 0).

Trp344is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is S).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.1030T>C (p.Trp344Arg)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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