Factor VII Variant Database

c.814G>A

p.Asp272Asn (Legacy AA No. 212)

Mutation Type:

Point

Domain:

Serine Protease

Codon Change:

GAC > AAC

Mutation Effect:

Missense

Location:

Exon(9)

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
623	UK		UK	Heterozygous	-	Asymptomatic		Herrmann et al 2009
414	29			Heterozygous	5	Asymptomatic	other mutation unknown	Unpublished Submission

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Asp	acidic	acyclic	medium	hydrophilic	negative
Mutated	Asn	-	acyclic	medium	hydrophilic	neutral

Substitution Analysis :

Grantham Score : 23

PolyPhen-2 Prediction : possibly damaging (Probability: 0.48)

SIFT Prediction :Tolerated (SCORE: 0.809)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Neutral (SCORE: -0.34)

Structural Implications :

Asp272 is shown below as a red sphere.

Asp272 is an exposed residue(the surface accessibility from the FVII structure is 3).

Asp272is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is B).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.814G>A (p.Asp272Asn)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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