Factor IX Variant Database

c.1078T>A

p.Phe360Ile (314)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Serine Protease

Location:

Exon 8

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	3	-		Moderate	-		USA	-	Thompson et al (1990)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Phe	aroma	cyclic	large	hydrophobic	neutral
Mutated	Ile	aliph	acycli	large	hydrophobic	neutral

Structural Implications :

Phe360 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 7).

Phe360 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.1078T>A (p.Phe360Ile)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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