In Depth Variant Analysis: c.130G>A (p.Val44Ile)

c.130G>A

p.Val44Ile (Legacy AA No. -16)

Mutation Type:

Point

Domain:

Propeptide

Codon Change:

ATC > GTC

Mutation Effect:

Missense

Location:

Exon(2)

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
494	4			UK	Homozygous	-	Unknown		Herrmann et al 2000

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Val	aliphatic	acyclic	medium	hydrophobic	neutral
Mutated	-	-	-	-	-	-

Substitution Analysis :

Structural Implications :

Val44 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.130G>A (p.Val44Ile)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :