Factor IX Variant Database

c.288G>C

p.Gln96His (50)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

EGF1

Location:

Exon 4

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1	-	-			-			-	Centre B31 (unpublished)
2	24	-		Mild	-		United Kingdom	-	Saad et al (1994)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Gln	-	acycli	large	hydrophilic	neutral
Mutated	His	aroma	cyclic	large	hydrophilic	postive

Structural Implications :

Gln96 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 2).

Gln96 is in a random coil region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is C).

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.288G>C (p.Gln96His)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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