Factor VII Variant Database

c.253G>A

p.Glu85Lys (Legacy AA No. 25)

Mutation Type:

Point

Domain:

Gla

Codon Change:

GAG > AAG

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
757			1,2	21	Heterozygous	1	Unknown	Nagaizumi et al 2002
408			1.2	21	Heterozygous	5	asymptomatic	Unpublished Submission

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Glu	acidic	acyclic	large	hydrophilic	negative
Mutated	Lys	basic	acyclic	large	hydrophilic	postive

Substitution Analysis :

PolyPhen-2 Prediction : probably damaging (Probability: 0.99)

SIFT Prediction :Damaging (SCORE: 0.001)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -3.55)

Structural Implications :

Glu85 is shown below as a red sphere.

Glu85 is an exposed residue(the surface accessibility from the FVII structure is 9).

Glu85is 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.253G>A (p.Glu85Lys)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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