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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.1148T>A (p.Leu383His )

c.1148T>A

p.Leu383His (337)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Serine Protease

Location:

Exon 8

No. of bases:

1

CpG:

-

Comments:

-

No. of patients reported:

4

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Country	Comments	Reference
1	-	-	Moderate	-	Canada	-	Rydz et al (2013)
2	-	-	Moderate	-	Canada	-	Rydz et al (2013)
3	-	-	Moderate	-	Canada	-	Rydz et al (2013)
4	-	-	Severe	-	Canada	-	Rydz et al (2013)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Leu	aliph	acycli	large	hydrophobic	neutral
Mutated	His	aroma	cyclic	large	hydrophilic	postive

Structural Implications :

Leu383 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 3).

Leu383 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 Variant Database