Factor IX Variant Database

c.496A>T

p.Asn166Tyr (120)

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	<1	0.4		Severe	-		United Kingdom	-	Green et al (1989)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Asn	-	acycli	medium	hydrophilic	neutral
Mutated	Tyr	aroma	cyclic	large	hydrophobic	neutral

Structural Implications :

Asn166 is a buried residue (the surface accessibility from the modelled FIXa structure is 1).

Asn166 is in a bend region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is S).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.496A>T (p.Asn166Tyr)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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