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.370G>A (p.Glu124Lys)

c.370G>A

p.Glu124Lys (78)

Mutation Type:

Point

Mutation Effect:

Missense

Domain:

EGF1

Location:

Exon 4

No. of bases:

1

CpG:

N

Comments:

-

No. of patients reported:

7

Patient Information : Show

Patient	FIX:C(%)	FIX:Ag(%)	Severity	Type	Country	Comments	Reference
1	<1	84	Severe	II	Netherlands	-	Bertina et al (1978)
2	0.1	-	Severe	-	Turkey	-	Onay et al (2003)
3	<1	<1	Severe	-	France	-	Costa et al (2000)
4	<1	-	Severe	-		-	Centre B31 (unpublished)
5	-	-		-	Spain	-	Montejo et al (1999)
6	-	-	Moderate	-	China	-	Cao et al (2014)
7	-	-	Moderate	-	China	-	Cao et al (2014)

Residue Information :

	Name	Type	Cyclic	Size	Hydrophobicity	Charge
Wild Type	Glu	acidi	acycli	large	hydrophilic	negative
Mutated	Lys	basic	acycli	large	hydrophilic	postive

Structural Implications :

Glu124 is a buried residue (the surface accessibility from the modelled FIXa structure is 0).

Glu124 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