Factor VII Variant Database

c.920G>A

p.Arg307His (Legacy AA No. 247)

Mutation Type:

Point

Domain:

Serine Protease

Codon Change:

CGC > CAC

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
52		24	28	26	Homozygous	-	asymptomatic	FVII MIE	Ohiwa et al 1994
584	30_<50			UK	Heterozygous	-	Moderate		Herrmann et al 2009

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	hydrophilic	postive
Mutated	His	aromatic/basic	cyclic	large	hydrophilic	postive

Substitution Analysis :

Grantham Score : 29

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

SIFT Prediction :Tolerated (SCORE: 0.088)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -2.74)

Structural Implications :

Arg307 is shown below as a red sphere.

Arg307 is an exposed residue(the surface accessibility from the FVII structure is 2).

Arg307is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is E).

Hint: Left click mouse | To rotate the structure
Hint: Rotate mousewheel | To zoom in/out the structure
Hint: Right click mouse | to use applet control options

Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.920G>A (p.Arg307His)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

Display Options