Factor IX Variant Database

c.1151G>T

p.Arg384Leu (338)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Serine Protease

Location:

Exon 8

No. of bases:

CpG:

Comments:

Hyperactive Variant; Padua variant;

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	776	92	Sporadic		I	NO	Italy	Hyperactive Variant; Padua variant;	Simioni et al (2009)
2	551	64	Sporadic		I	NO	Italy	Hyperactive Variant; Padua variant;	Simioni et al (2009)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Arg	basic	acycli	large	hydrophilic	postive
Mutated	Leu	aliph	acycli	large	hydrophobic	neutral

Structural Implications :

Arg384 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 6).

Arg384 is in a alpha helix region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is H).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.1151G>T (p.Arg384Leu)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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