Factor IX Variant Database

c.1283T>C

p.Ile428Thr (382)

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	25	-		mild	-	NO	Cuba	-	Borràs et al (2022)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Ile	aliph	acycli	large	hydrophobic	neutral
Mutated	Thr	-	acycli	medium	hydrophilic	neutral

Structural Implications :

Ile428 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Ile428 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.1283T>C (p.Ile428Thr)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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