Factor VII Variant Database

c.599T>G

p.Ile200Ser (Legacy AA No. 140)

Mutation Type:

Point

Domain:

Activation Peptide

Codon Change:

AGT > ATT

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
424		62	62	65	Heterozygous	-	Unknown		Rodrigues et al 2003

Residue Information :

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

Substitution Analysis :

Structural Implications :

Ile200 is shown below as a red sphere.

Ile200 is an exposed residue(the surface accessibility from the FVII structure is 5).

Ile200 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.599T>G (p.Ile200Ser)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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