Javascript is not enabled in your browser.
This form will not function properly without Javascript enabled.
Please enable Javascript and reload the form.

Factor IX Gene (F9)

Variant Database

In Depth Mutation Analysis: c.368T>G (p.Phe123Cys)

c.368T>G

p.Phe123Cys (77)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

EGF1

Location:

Exon 4

No. of bases:

1

CpG:

N

Comments:

-

No. of patients reported:

4

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Country	Comments	Reference
1	-	-		-	United Kingdom	-	Saad et al (1994)
2	<1	-	Severe	-	United Kingdom	-	Enayat et al (2004)
3	<1	-	Severe	-	United Kingdom	-	Enayat et al (2004)
4	12	-	Mild	-	Sweden	-	Halldén et al (2013)

Residue Information :

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

Structural Implications :

Phe123 is an exposed residue. (the surface accessibility from the modelled FIXa structure is 2).

Phe123 is in a beta sheet region of the FIXa structure (the DSSP assignment from the modelled FIXa domains is E).

Hint: Left click mouse | To rotate the structure
Hint: Rotate mousewheel | To zoom in/out the structure
Hint: Right click mouse | to use applet control options

NOTE: If a Java error message appears, please click the following LINK.

Please click here to view the Database Statistics

Factor IX Variant Database