Factor IX Variant Database

c.491C>T

p.Ala164Val (118)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

EGF2

Location:

Exon 5

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1	25	-		Mild	-			-	Centre B26 (unpublished)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Ala	aliph	acycli	small	hydrophobic	neutral
Mutated	Val	aliph	acycli	medium	hydrophobic	neutral

Structural Implications :

Ala164 is a buried residue (the surface accessibility from the modelled FIXa structure is 1).

Ala164 is in a random coil region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is C).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.491C>T (p.Ala164Val)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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