Factor IX Variant Database

c.233T>C

p.Phe78Ser (32)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

Gla

Location:

Exon 2

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1	5	-		Moderate	-			-	Centre B31 (unpublished)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Phe	aroma	cyclic	large	hydrophobic	neutral
Mutated	Ser	-	acycli	small	hydrophilic	neutral

Structural Implications :

Phe78 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 2).

Phe78 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.233T>C (p.Phe78Ser)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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