Factor VII Variant Database

c.245G>A

p.Cys82Tyr (Legacy AA No. 22)

Mutation Type:

Point

Domain:

Gla

Codon Change:

TAC > TGC

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
474		2	2	57	Heterozygous	1	Moderate		Borhany et al 2013

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Cys	-	acyclic	medium	hydrophilic	neutral
Mutated	-	-	-	-	-	-

Substitution Analysis :

Structural Implications :

Cys82 is shown below as a red sphere.

Cys82 is a buried residue(the surface accessibility from the FVII structure is 1).

Cys82 is in a random coil area of the FVII structure (the DSSP assignment from the modelled FVII domains is C).

The substitution involves a conserved cysteine residue that forms a disulphide bridge. Breakage of this disulphide bridge may have serious effects on the stability of the domain.

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Factor VII Gene (F7)

Variant Database

In Depth Variant Analysis: c.245G>A (p.Cys82Tyr)

Patient Information : Show

Residue Information :

Substitution Analysis :

Structural Implications :

Structure details

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