Factor IX Variant Database

c.796G>A

p.Ala266Thr (220)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Serine Protease

Location:

Exon 7

No. of bases:

CpG:

Comments:

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	<1	-		Severe	-		Italy	-	Belvini et al (2005)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Ala	aliph	acycli	small	hydrophobic	neutral
Mutated	Thr	-	acycli	medium	hydrophilic	neutral

Structural Implications :

Ala266 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Ala266 is in a hydrogen bonded turn region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is T).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.796G>A (p.Ala266Thr)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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