Factor VII Variant Database

c.847C>T

p.Arg283Trp (Legacy AA No. 223)

Mutation Type:

Point

Domain:

Serine Protease

Codon Change:

CGG > TGG

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
97		62	58	Heterozygous	3	unknown	Bernardi et al 1996
98		60	50	Heterozygous	3	unknown	Bernardi et al 1996
23		60	58	Heterozygous	3	unknown	Bernardi et al 1996
99		44	49	Heterozygous	3	asymptomatic	Bernardi et al 1996
96		78	81	Heterozygous	3	unknown	Bernardi et al 1996
630	UK		UK	Heterozygous	-	Asymptomatic	Herrmann et al 2009

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	hydrophilic	postive
Mutated	Trp	aromatic	cyclic	large	hydrophobic	neutral

Substitution Analysis :

Grantham Score : 101

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

SIFT Prediction :Damaging (SCORE: 0.023)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -3.82)

Structural Implications :

Arg283 is shown below as a red sphere.

Arg283 is an exposed residue(the surface accessibility from the FVII structure is 5).

Arg283is 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.847C>T (p.Arg283Trp)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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