Factor VII Variant Database

c.247T>C

p.Ser83Pro (Legacy AA No. 23)

Mutation Type:

Point

Domain:

Gla

Codon Change:

TCC > CCC

Mutation Effect:

Missense

Location:

Exon(3)

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
252		<1		77	Heterozygous	-	severe		Peyvandi et al 2000b

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 :Damaging (SCORE: 0.001)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Deleterious (SCORE: -4.17)

Structural Implications :

Ser83 is shown below as a red sphere.

Ser83 is an exposed residue(the surface accessibility from the FVII structure is 5).

Ser83 is in a random coil area of the FVII structure (the DSSP assignment from the modelled FVII domains is C).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.247T>C (p.Ser83Pro)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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