Factor IX Variant Database

c.1348T>A

p.Tyr450Asn (404)

Mutation Type:

Polymorphism

Mutation Effect:

Missense

Domain:

Serine Protease

Location:

Exon 8

No. of bases:

CpG:

Comments:

dbSNP database

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-			-			dbSNP database	Sherry et al (1999)

Residue Information :

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

Structural Implications :

Tyr450 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Tyr450 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.1348T>A (p.Tyr450Asn)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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