Factor VII Variant Database

c.1268G>T

p.Ser423Ile (Legacy AA No. 363)

Mutation Type:

Point

Domain:

Serine Protease

Codon Change:

AGC > ATC

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
730	<1			130	Homozygous	-	Mild		Peyvandi et al 2000
275		<1		80	Homozygous	-	mild		Peyvandi et al 2000b
276		<1		130	Homozygous	-	mild		Peyvandi et al 2000b

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Ser	-	acyclic	small	hydrophilic	neutral
Mutated	Ile	aliphatic	acyclic	large	hydrophobic	neutral

Substitution Analysis :

Grantham Score : 142

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

SIFT Prediction :Damaging (SCORE: 0.000)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -5.75)

Structural Implications :

Ser423 is shown below as a red sphere.

Ser423 is a buried residue(the surface accessibility from the FVII structure is 0).

Ser423is 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.1268G>T (p.Ser423Ile)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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