Factor VII Variant Database

c.362G>T

p.Cys121Phe (Legacy AA No. 61)

Mutation Type:

Point

Domain:

EGF1

Codon Change:

TGC > TTC

Mutation Effect:

Missense

Location:

Exon(5)

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
297		1		7	Heterozygous	3	severe		Millar et al 2000

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Cys	-	acyclic	medium	hydrophilic	neutral
Mutated	Phe	aromatic	cyclic	large	hydrophobic	neutral

Substitution Analysis :

Grantham Score : 205

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

SIFT Prediction :Damaging (SCORE: 0.000)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -10.19)

Structural Implications :

Cys121 is shown below as a red sphere.

Cys121 is an exposed residue(the surface accessibility from the FVII structure is 3).

Cys121is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is E).

The substitution involves a conserved cysteine residue that forms a disulphide bridge. Breakage of this disulphide bridge may have serious effects on the stability of the domain.

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.362G>T (p.Cys121Phe)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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