Fabry Disease Selected Mutations

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.