In Depth Variant Analysis: c.38T>C (p.Leu13Pro)

c.38T>C

p.Leu13Pro (Legacy AA No. -48)

Mutation Type:

Point

Domain:

Signal Peptide

Codon Change:

CTT > CCT

Mutation Effect:

Missense

Location:

Exon(1)

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
203		10.7	11	Homozygous	2	asymptomatic	FVII Morioka	Ozawa et al 1998
752	11		11	Homozygous	-	Unknown		Rizzotto et al 2006

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Leu	aliphatic	acyclic	large	hydrophobic	neutral
Mutated	Pro	-	cyclic	medium	hydrophobic	neutral

Substitution Analysis :

Grantham Score : 98

PolyPhen-2 Prediction : benign (Probability: 0.03)

SIFT Prediction :Damaging (SCORE: 0.000)

PROVEAN (Protein Variation Effect Analyzer) Prediction : Neutral (SCORE: -2.17)

Structural Implications :

Leu13 is in a region of FVII crystal structure that is undefined. Hence the FVII crystal structure model and its JSMOL applet are not shown below.

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Factor VII Variant Database

Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.38T>C (p.Leu13Pro)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :