In Depth Variant Analysis: c.152C>A (p.Ala51Asp)

c.152C>A

p.Ala51Asp (Legacy AA No. -9)

Mutation Type:

Point

Domain:

Propeptide

Codon Change:

GAC > GCC

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
583	10_<20			UK	Heterozygous	-	Mild		Herrmann et al 2009

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Ala	aliphatic	acyclic	small	hydrophobic	neutral
Mutated	Asp	acidic	acyclic	medium	hydrophilic	negative

Substitution Analysis :

Grantham Score : 126

SIFT Prediction :Damaging (SCORE: 0.000)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -5.32)

Structural Implications :

Ala51 is in a region of FVII crystal structure that is undefined. Hence the FVII crystal structure model and its JSMOL applet are not shown below.

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Factor VII Variant Database

Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.152C>A (p.Ala51Asp)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :