Factor VII Variant Database

c.547G>T

p.Asp183Tyr (Legacy AA No. 123)

Mutation Type:

Point

Domain:

EGF2

Codon Change:

TAC > GAC

Mutation Effect:

Missense

Location:

Exon(6)

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
751	<1			<1	Heterozygous	1	Mild		D'Andrea et al 2004

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Asp	acidic	acyclic	medium	hydrophilic	negative
Mutated	-	-	-	-	-	-

Substitution Analysis :

Structural Implications :

Asp183 is shown below as a red sphere.

Asp183 is an exposed residue(the surface accessibility from the FVII structure is 9).

Asp183 is in a random coil area of the FVII structure (the DSSP assignment from the modelled FVII domains is T).

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.547G>T (p.Asp183Tyr)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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