Factor VII Variant Database

c.589A>G

p.Lys197Glu (Legacy AA No. 137)

Mutation Type:

Point

Domain:

Activation Peptide

Codon Change:

AAA > GAA

Mutation Effect:

Missense

Location:

Exon(7)

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
17			<1	18	Heterozygous	-	asymptomatic	other allele is not determined	Takamiya et al 1993

Residue Information :

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

Substitution Analysis :

Grantham Score : 56

PolyPhen-2 Prediction : possibly damaging (Probability: 0.91)

SIFT Prediction :Damaging (SCORE: 0.036)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -2.77)

Structural Implications :

Lys197 is shown below as a red sphere.

Lys197 is an exposed residue(the surface accessibility from the FVII structure is 4).

Lys197 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.589A>G (p.Lys197Glu)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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