In Depth Variant Analysis:  c.422C>T (p.Thr141Met)
Terms with a '*' next to them are explained on the Help Page .
c.422C>T
p.Thr141Met (Legacy AA No. 123)
Variant Type:  
Point
Domain:  
Apple 2
Codon Change: 
C>T
Variant Effect: 
Missense
No. of Patients Reported: 
2
Phenotype: 
I
Allele Count *: 
11
Allele Number *: 
282690
Allele Frequency *: 
0.000039
Variant Comments & Reference:
The Thr141Met mutation results in the introduction of a hydrophobic sulfur atom (Met) and the loss of hydrophilic hydroxyl group (Thr). Castaman et al 2008Residue Information:
Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Thr141 is a buried residue  (surface accessibility value = 0 ).
Thr141 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Thr141 is in a region of secondary structure within the FXI 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
|
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.