In-Depth Variant Analysis:  c.1073C>T (p.Thr358Met)
Terms with a '*' next to them are explained on the Help Page .
c.1073C>T
p.Thr358Met (Legacy AA No. 318)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Missense
Codon Change: 
C>T
No. of Patients Reported: 
7
Phenotype: 
II
Allele Count *: 
4
Allele Number *: 
250316
Allele Frequency *: 
0.000016
Variant Comments & Reference:
Variant disrupts FX catalytic activity without interfering with FX structure (FX Roma). Legacy cDNA numbering in paper - Leytus et al 1986 (c.1098C>T)Residue Information:
Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Thr358 is a buried residue  (surface accessibility value = 1 ).
Thr358 is in a region of secondary structure within the FX domains.
The DSSP assignment for this residue is ... E.
Thr358 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
|
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.