Factor IX Variant Database

c.1289G>C

p.Ser430Thr (384)

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	24	-		Mild	-		Spain	-	Montejo et al (1999)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Ser	-	acycli	small	hydrophilic	neutral
Mutated	Thr	-	acycli	medium	hydrophilic	neutral

Structural Implications :

Ser430 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Ser430 is in a beta sheet region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is E).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.1289G>C (p.Ser430Thr)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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