We randomly selected ten annotated point mutations of the human gene GLA. They were chosen out of a pool of mutations that consist of two subsets. The first subset contains mutations that are present in HGMD and these mutations were already gathered in the task 4 Mapping SNPs. The second subset are mutations which are present in dbSNP, but not included in HGMD. This was only the case for three mutations.
Mutations at the amino acid position between 1 and 31 were not included in the selection process, because they are part of the signal peptide (see UniProt entry) and they are not present in the reference structure (PDB ID 1R47).
The visualization of the residues was done by using PyMol. The manual mutagenesis of the residues was performed according to this tutorial. The tool-based mutagenesis are used in the task structure-based mutation analysis.
| Number
|
AA-Position
|
Codon change
|
Amino acid change
|
Wildtype
|
Manual
|
Tool-based
|
| 1 |
42 |
ATG-ACG |
Met -> Thr |
 Close-up of the wildtype residue number 42 of GLA. |
 Close-up of the mutated residue number 42 of GLA. |
 Close-up of the mutated residue number 42 of GLA. |
| 2 |
65 |
AGT-ACG |
Ser -> Thr |
 Close-up of the wildtype residue number 65 of GLA. |
 Close-up of the mutated residue number 65 of GLA. |
 Close-up of the mutated residue number 65 of GLA. |
| 3 |
117 |
ATT-AGT |
Ile -> Ser |
 Close-up of the wildtype residue number 117 of GLA. |
 Close-up of the mutated residue number 117 of GLA. |
 Close-up of the mutated residue number 117 of GLA. |
| 4 |
143 |
cGCA-ACA |
Ala -> Thr |
 Close-up of the wildtype residue number 143 of GLA. |
 Close-up of the mutated residue number 143 of GLA. |
 Close-up of the mutated residue number 143 of GLA. |
| 5 |
186 |
CAC-CGC |
His -> Arg |
 Close-up of the wildtype residue number 186 of GLA. |
 Close-up of the mutated residue number 186 of GLA. |
 Close-up of the mutated residue number 186 of GLA. |
| 6 |
205 |
gCCT-ACT |
Pro -> Thr |
 Close-up of the wildtype residue number 205 of GLA. |
 Close-up of the mutated residue number 205 of GLA. |
 Close-up of the mutated residue number 205 of GLA. |
| 7 |
244 |
gGAC-CAC |
Asp -> His |
 Close-up of the wildtype residue number 244 of GLA. |
 Close-up of the mutated residue number 244 of GLA. |
 Close-up of the mutated residue number 244 of GLA. |
| 8 |
283 |
CAG-CCG |
Gln -> Pro |
 Close-up of the wildtype residue number 283 of GLA. |
 Close-up of the mutated residue number 283 of GLA. |
 Close-up of the mutated residue number 283 of GLA. |
| 9 |
321 |
tCAG-TAG |
Gln -> Glu |
 Close-up of the wildtype residue number 321 of GLA. |
 Close-up of the mutated residue number 321 of GLA. |
 Close-up of the mutated residue number 321 of GLA. |
| 10 |
363 |
TATa-TAA |
Arg -> Cys |
 Close-up of the wildtype residue number 363 of GLA. |
 Close-up of the mutated residue number 363 of GLA. |
 Close-up of the mutated residue number 363 of GLA. |
