Factor VII Variant Database

c.460G>A

p.Glu154Lys (Legacy AA No. 94)

Mutation Type:

Point

Domain:

EGF2

Codon Change:

GAG > AAG

Mutation Effect:

Missense

Location:

Exon(6)

No of bases:

No. of patients reported:

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
512	UK		UK	Homozygous	-	Asymptomatic	Herrmann et al 2009
234	13			Homozygous	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 : possibly damaging (Probability: 0.93)

SIFT Prediction :Tolerated (SCORE: 0.622)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Neutral (SCORE: -1.51)

Structural Implications :

Glu154 is shown below as a red sphere.

Glu154 is an exposed residue(the surface accessibility from the FVII structure is 9).

Glu154is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is G).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.460G>A (p.Glu154Lys)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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