Factor VII Variant Database

c.479A>T

p.Gln160Leu (Legacy AA No. 100)

Mutation Type:

Point

Domain:

EGF2

Codon Change:

CTG > CAG

Mutation Effect:

Missense

Location:

Exon(6)

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
443	2_<6			not in the abstract	Heterozygous	1	Moderate		Jin et al 2012

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Gln	-	acyclic	large	hydrophilic	neutral
Mutated	-	-	-	-	-	-

Substitution Analysis :

Structural Implications :

Gln160 is shown below as a red sphere.

Gln160 is a buried residue(the surface accessibility from the FVII structure is 0).

Gln160is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is S).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.479A>T (p.Gln160Leu)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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