Factor X Variant Database

In-Depth Variant Analysis: c.863T>C (p.Val288Ala)

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

c.863T>C

p.Val288Ala (Legacy AA No. 248)

Variant Type:

Point

Domain:

Serine protease

Location:

Exon 7

Variant Effect:

Missense

Codon Change:

T>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Variant has limited effect of native FX interactions but likely to disrupt FX function due to localisation in catalytic site. Legacy cDNA numbering in paper - unknown origin (c.866T>C)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
14	12	M	Indian	<1		Homozygous	c.792C>T (p.Thr264=)	Not Reported	Epistaxis.	Mota et al 2010
267	25	F		<1	46	Homozygous		Not Reported	Ecchymosis, menorrhagia, gastrointestinal bleeds. (Carrier of FV Leiden).	Shetty, Mota & Ghosh 2010
268	22	M		<1	50	Homozygous		Not Reported	Epistaxis.	Shetty, Mota & Ghosh 2010
4	25	F	Indian	1.5	46	Homozygous	c.792C>T (p.Thr264=)	Not Reported	Echymosis, menorrhagia.	Mota et al 2010

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Val	aliphatic	acyclic	medium	buried	hydrophobic	neutral
Mutated	Ala	aliphatic	acyclic	small	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 64

PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.999)

SIFT Prediction : Tolerated (SCORE: 0.77)

PROVEAN Prediction : Neutral (SCORE: -2.121)

Structural Implications:

Val288 is a buried residue (surface accessibility value = 0 ).

Val288 is in a region of secondary structure within the FX domains.

The DSSP assignment for this residue 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

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