In Depth Variant Analysis: c.1634G>A (p.Cys545Tyr)
Terms with a '*' next to them are explained on the Help Page .
c.1634G>A
p.Cys545Tyr (Legacy AA No. 527)
Variant Type:
Point
Domain:
Serine Protease
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
1
Allele Number *:
251462
Allele Frequency *:
0.000004
Variant Comments & Reference:
Expression of Cys545Tyr in BHK cells revealed intact dimerisation, a reduced amount of FXI in lysed cells and total lack of secretion from the cells. Zucker et al 2007Residue Information:
| Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
|---|---|---|---|---|---|---|---|
| |
|
|
|
|
|
|
|
| |
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Cys545 is a buried residue (surface accessibility value = 0 ).
Cys545 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... H.
Cys545 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.