Factor VII Variant Database

c.973G>A

p.Glu325Lys (Legacy AA No. 265)

Mutation Type:

Point

Domain:

Serine Protease

Codon Change:

GAA > AAA

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
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Inheritance	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
229		42		46	Heterozygous	3	asymptomatic		Bernardi et al 1996
666	UK			UK	Heterozygous	-	Asymptomatic		Herrmann et al 2009
54		44			Heterozygous	6	unknown		Wulff et al 2000

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Glu	acidic	acyclic	large	hydrophilic	negative
Mutated	Lys	basic	acyclic	large	hydrophilic	postive

Substitution Analysis :

PolyPhen-2 Prediction : probably damaging (Probability: 1)

SIFT Prediction :Tolerated (SCORE: 0.142)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Neutral (SCORE: -2.30)

Structural Implications :

Glu325 is shown below as a red sphere.

Glu325 is an exposed residue(the surface accessibility from the FVII structure is 5).

Glu325 is in a random coil area of the FVII structure (the DSSP assignment from the modelled FVII domains is C).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.973G>A (p.Glu325Lys)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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