In Depth Variant Analysis:  c.1247G>A (p.Cys416Tyr)
Terms with a '*' next to them are explained on the Help Page .
c.1247G>A
p.Cys416Tyr (Legacy AA No. 398)
Variant Type:  
Point
Domain:  
Serine Protease
Codon Change: 
G>A
Variant Effect: 
Missense
No. of Patients Reported: 
17
Phenotype: 
I
Allele Count *: 
4
Allele Number *: 
251468
Allele Frequency *: 
0.000016
Variant Comments & Reference:
Mutant protein is not expressed by 293 human kidney fibroblasts. Western blot shows mutant protein forms intracellular dimer. Transfections show reduced secretion of mutant protein. Has a dominant negative effect on wild type secretion. This mutation breaks the disulphide bridge between Cys416-Cys432. Gailani et al 2001 (Abstract), Kravtsov et al 2005, Saunders et al 2009, Esteban et al 2017, Colakoglu et al 2018Residue Information:
Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
---|---|---|---|---|---|---|---|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Cys416 is a buried residue  (surface accessibility value = 0 ).
Cys416 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Cys416 is in a region of secondary structure within the FXI 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.