Factor VII Variant Database

c.466G>A

p.Gly156Ser (Legacy AA No. 96)

Mutation Type:

Point

Domain:

EGF2

Codon Change:

GGC > AGC

Mutation Effect:

Missense

Location:

Exon(6)

No of bases:

No. of patients reported:

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
522	<4		UK	Homozygous	-		thrombotic episode	Herrmann et al 2009
357	2		15	Heterozygous	5	mild		Giansily-Blaizot et al 2001

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Gly	aliphatic	acyclic	small	hydrophobic	neutral
Mutated	Ser	-	acyclic	small	hydrophilic	neutral

Substitution Analysis :

Grantham Score : 80

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

SIFT Prediction :Damaging (SCORE: 0.000)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -5.34)

Structural Implications :

Gly156 is shown below as a red sphere.

Gly156 is a buried residue(the surface accessibility from the FVII structure is 0).

Gly156is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is G).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.466G>A (p.Gly156Ser)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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