Factor VII Variant Database

c.1021G>T

p.Val341Phe (Legacy AA No. 281)

Mutation Type:

Point

Domain:

Serine Protease

Codon Change:

GTC > TTC

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
241	17				Homozygous	1	unknown		Herrmann et al 1997
488	4			30	Heterozygous	1	Mild		Herrmann et al 2000
168		<1		10	Heterozygous	8	unknown		Wulff et al 2000

Residue Information :

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

Substitution Analysis :

Grantham Score : 50

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

SIFT Prediction :Damaging (SCORE: 0.000)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -4.61)

Structural Implications :

Val341 is shown below as a red sphere.

Val341 is a buried residue(the surface accessibility from the FVII structure is 0).

Val341is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is E).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.1021G>T (p.Val341Phe)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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