Factor VII Variant Database

c.218T>A

p.Leu73Gln (Legacy AA No. 13)

Mutation Type:

Point

Domain:

Gla

Codon Change:

CTG > CAG

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
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Inheritance	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
153		2			Heterozygous	7	mild	Female	Giansily-Blaizot et al 2001
568	<1			UK	Heterozygous	2	Severe		Herrmann et al 2009
294		2		7	Heterozygous	3	severe		Millar et al 2000
388	32				Heterozygous	5	Severe	Three FVII lesions were analysed in family studies.Genotype is: Leu13 Gln;Ala294 Val (double mutation) and Gly78 Asp	Unpublished Submission

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Leu	aliphatic	acyclic	large	hydrophobic	neutral
Mutated	Gln	-	acyclic	large	hydrophilic	neutral

Substitution Analysis :

Grantham Score : 113

PolyPhen-2 Prediction : probably damaging (Probability: 1)

SIFT Prediction :Damaging (SCORE: 0.000)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -5.39)

Structural Implications :

Leu73 is shown below as a red sphere.

Leu73 is an exposed residue(the surface accessibility from the FVII structure is 5).

Leu73is 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.218T>A (p.Leu73Gln)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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