In Depth Variant Analysis: c.35T>C (p.Leu12Pro)

c.35T>C

p.Leu12Pro (Legacy AA No. -49)

Mutation Type:

Point

Domain:

Signal Peptide

Codon Change:

CCG > CTG

Mutation Effect:

Missense

Location:

Exon(1)

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
764	12.5	14.5	14.5		Heterozygous	1	Unknown		Kogiso et al 2011

Residue Information :

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

Substitution Analysis :

Structural Implications :

Leu12 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.35T>C (p.Leu12Pro)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :