In Depth Variant Analysis: c.1106A>C (p.Tyr369Ser)
Terms with a '*' next to them are explained on the Help Page .
c.1106A>C
p.Tyr369Ser (Legacy AA No. 351)
Variant Type:
Point
Domain:
Apple 4
Codon Change:
A>C
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Tyr369 is highly conserved in the FXI amino acid sequences of related proteases of different species, indicating the importance of this residue to the structure of Ap4 domain in FXIa. Ap4 is important for the dimerisation of FXIa. A missense substitution at the adjoining residue Gly368Glu (factor XI Nagoya II) has been demonstrated (by expression studies) to have a profound effect on FXIa dimerization. It is possible that Tyr369Ser could have a similar effect on FXIa dimerisation. Kravtsov et al 2004, Jayandharan et al 2005Residue Information:
| Name | Type | Cyclic | Size | Position | Hydrophobicity | Charge | |
|---|---|---|---|---|---|---|---|
| |
|
|
|
|
|
|
|
| |
|
|
|
|
|
|
|
Substitution Analysis:
Structural Implications:
Tyr369 is a buried residue (surface accessibility value = 0 ).
Tyr369 is in a region of secondary structure within the FXI domains.
The DSSP assignment for this residue is ... E.
Tyr369 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.