Factor VII Variant Database

c.751G>C

p.Ala251Pro (Legacy AA No. 191)

Mutation Type:

Point

Domain:

Serine Protease

Codon Change:

CCG > GCG

Mutation Effect:

Missense

Location:

Exon(8)

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
695	<1			46	Heterozygous	1	Severe		Mota et al 2009

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Ala	aliphatic	acyclic	small	hydrophobic	neutral
Mutated	Pro	-	cyclic	medium	hydrophobic	neutral

Substitution Analysis :

Grantham Score : 27

SIFT Prediction :Damaging (SCORE: 0.000)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -4.71)

Structural Implications :

Ala251 is shown below as a red sphere.

Ala251 is a buried residue(the surface accessibility from the FVII structure is 0).

Ala251 is in a random coil area of the FVII structure (the DSSP assignment from the modelled FVII domains is C).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.751G>C (p.Ala251Pro)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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