Factor VII Variant Database

c.358T>C

p.Ser120Pro (Legacy AA No. 60)

Mutation Type:

Point

Domain:

EGF1

Codon Change:

TCC > CCC

Mutation Effect:

Missense

Location:

Exon(5)

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
508	5_<10		UK	Heterozygous	1	Mild	Herrmann et al 2000
220	2 to 9			Heterozygous	6	mild	Wulff et al 2000

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Ser	-	acyclic	small	hydrophilic	neutral
Mutated	Pro	-	cyclic	medium	hydrophobic	neutral

Substitution Analysis :

Grantham Score : 74

PolyPhen-2 Prediction : probably damaging (Probability: 0.99)

SIFT Prediction :Tolerated (SCORE: 0.178)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Neutral (SCORE: -2.25)

Structural Implications :

Ser120 is shown below as a red sphere.

Ser120 is an exposed residue(the surface accessibility from the FVII structure is 7).

Ser120is in a region of secondary structure within the FVII domains (the DSSP assignment from the modelled FVII domains is E).

Ser120 is in a proposed O-linked (Fuc) site [Reference].

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.358T>C (p.Ser120Pro)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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