Factor IX Variant Database

c.800A>C

p.His267Pro (221)

Mutation Type:

Polymorphism

Mutation Effect:

Missense

Domain:

Serine Protease

Location:

Exon 7

No. of bases:

CpG:

Comments:

ClinVar

No. of patients reported:

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Inheritance	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-			-			ClinVar	Landrum et al (2018)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	His	aroma	cyclic	large	hydrophilic	postive
Mutated	Pro	-	cyclic	medium	hydrophobic	neutral

Structural Implications :

His267 is a buried residue (the surface accessibility from the modelled FIXa structure is 1).

His267 is in a hydrogen bonded turn region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is T).

His267 forms the catalytic triad conserved within Serine Proteases and thus is in a proposed Active site [Di Scipio RG (1978)]

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.800A>C (p.His267Pro)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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