In Depth Variant Analysis: c.178C>T (p.Arg60Cys)

c.178C>T

p.Arg60Cys (Legacy AA No. -1)

Mutation Type:

Point

Domain:

Propeptide

Codon Change:

TGC > CGG

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
686	21			UK	Homozygous	-	Mild		Jayandharan et al 2007

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Arg	basic	acyclic	large	hydrophilic	postive
Mutated	-	-	-	-	-	-

Substitution Analysis :

Structural Implications :

Arg60 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.178C>T (p.Arg60Cys)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :