Factor IX Variant Database

c.197A>T

p.Glu66Val (20)

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(%)	Severity	Type	Inhibitors	Country	Comments	Reference
1	-	-	Moderate	-		Germany	-	Wulff et al (1995)
2	6	-	mild	-	NO	India	-	Kulkarni et al (2021)
3	9	-	mild	-	NO	India	-	Kulkarni et al (2021)
4	0.3	-	severe	-	NO	India	-	Kulkarni et al (2021)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Glu	acidi	acycli	large	hydrophilic	negative
Mutated	Val	aliph	acycli	medium	hydrophobic	neutral

Structural Implications :

Glu66 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 6).

Glu66 is in a pi helix region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is I).

The substitution involves a Gamma carboxy glutamic acid(CGU) residue in the Gla domain.

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Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.197A>T (p.Glu66Val)

Patient Information : Show

Residue Information :

Structural Implications :

Structure details

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