Factor VII Variant Database

c.415C>T

p.Arg139Trp (Legacy AA No. 79)

Mutation Type:

Point

Domain:

EGF1

Codon Change:

CGG > TGG

Mutation Effect:

Missense

Location:

Exon(5)

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
302		10	10	52	Heterozygous	3	asymptomatic		Takamiya et al 1993

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	hydrophilic	postive
Mutated	Trp	aromatic	cyclic	large	hydrophobic	neutral

Substitution Analysis :

Grantham Score : 101

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

SIFT Prediction :Damaging (SCORE: 0.002)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -5.51)

Structural Implications :

Arg139 is shown below as a red sphere.

Arg139 is an exposed residue(the surface accessibility from the FVII structure is 9).

Arg139 is in a random coil area of the FVII structure (the DSSP assignment from the modelled FVII domains is T).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.415C>T (p.Arg139Trp)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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