Factor X Variant Database

In-Depth Variant Analysis: c.1169G>T (p.Cys390Phe)

Terms with a '*' next to them are explained on the Help Page .

c.1169G>T

p.Cys390Phe (Legacy AA No. 350)

Variant Type:

Point

Domain:

Serine protease

Location:

Exon 8

Variant Effect:

Missense

Codon Change:

G>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

250742

Allele Frequency *:

0.000008

Variant Comments & Reference:

Variant disrupts disulfide bond formation in catalytic region (Cys390-Cys404), altering FX structure and function.

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Severity	Comments	Reference
342	5	M	Italian	4.7	<5	Homozygous	Not Reported	Severe anemia (due to rectal bleeding), intraventricular brain bleed. Related to pa_id: 343 & 344.	Vianello et al 2003
343	40	M	Italian	59	46	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 342.	Vianello et al 2003
344	38	F	Italian	48	45	Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 342.	Vianello et al 2003

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Cys	-	acyclic	medium	buried	hydrophilic	neutral
Mutated	Phe	aromatic	cyclic	large	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 205

PolyPhen-2 Prediction : Probably Damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -10.581)

Structural Implications:

Cys390 is a buried residue (surface accessibility value = 0 ).

Cys390 is in a region of secondary structure within the FX domains.

The DSSP assignment for this residue is ... H.

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

Controls

The molecule can be rotated with the mouse holding the left button and the image can be magnified using the middle mouse button.

Right Click on the JMOL screen for more options.

Options

Spacefill
Cartoon
Wireframe
Trace
Backbone
Spin
Background
Disulphides
Domains
Alternative Colouring
Labels

Right Click on the molecule's screen for more options.

NOTE: If no Java applet appears or a Java error message is shown, please click the following LINK.

Please click here to view the Database Statistics