Factor VII Variant Database

c.190T>C

p.Phe64Leu (Legacy AA No. 4)

Mutation Type:

Point

Domain:

Gla

Codon Change:

TTC > CTC

Mutation Effect:

Missense

Location:

Exon(3)

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
495	<1		2	Homozygous	-	Moderate	Herrmann et al 2000
216		<1		Homozygous	6	unknown	Wulff et al 2000

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Phe	aromatic	cyclic	large	hydrophobic	neutral
Mutated	Leu	aliphatic	acyclic	large	hydrophobic	neutral

Substitution Analysis :

Grantham Score : 22

PolyPhen-2 Prediction : benign (Probability: 0.02)

SIFT Prediction :Tolerated (SCORE: 0.596)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Neutral (SCORE: -2.08)

Structural Implications :

Phe64 is shown below as a red sphere.

Phe64 is an exposed residue(the surface accessibility from the FVII structure is 9).

Phe64is 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.190T>C (p.Phe64Leu)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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