Factor VII Variant Database

c.265G>A

p.Glu89Lys (Legacy AA No. 29)

Mutation Type:

Point

Domain:

Gla

Codon Change:

AAG > GAG

Mutation Effect:

Missense

Location:

Exon(3)

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
426	0_<2			UK	Heterozygous	1	Severe		Hewitt et al 2005

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Glu	acidic	acyclic	large	hydrophilic	negative
Mutated	-	-	-	-	-	-

Substitution Analysis :

Structural Implications :

Glu89 is shown below as a red sphere.

Glu89 is an exposed residue(the surface accessibility from the FVII structure is 9).

Glu89is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is H).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.265G>A (p.Glu89Lys)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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