Factor VII Variant Database

c.851G>A

p.Arg284Gln (Legacy AA No. 224)

Mutation Type:

Point

Domain:

Serine Protease

Codon Change:

CAG > CGG

Mutation Effect:

Missense

Location:

Exon(9)

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
417	6			7	Heterozygous	1	Asymptomatic		Borensztajn et al 2005

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	hydrophilic	postive
Mutated	-	-	-	-	-	-

Substitution Analysis :

Structural Implications :

Arg284 is shown below as a red sphere.

Arg284 is an exposed residue(the surface accessibility from the FVII structure is 9).

Arg284is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is E).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.851G>A (p.Arg284Gln)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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