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[![DOI](https://zenodo.org/badge/697276360.svg)](https://zenodo.org/badge/latestdoi/697276360)

# pymissense
PyMissense creates the pathogencity plot and the modified pdb as shown in the [AlphaMissense paper](https://www.science.org/doi/10.1126/science.adg7492) for custom proteins.
PyMissense generates the pathogenicity plot and modified pdb as shown in the [AlphaMissense paper](https://www.science.org/doi/10.1126/science.adg7492) for custom proteins.

## What it does

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2. It creates a modified PDB file where the temperature factor (bfactor) is replaced by the pathogencity predicted by AlphaMissense that allows you to visualize the effect with Chimerax, like [Figure 3E](https://www.science.org/doi/10.1126/science.adg7492#F3) of the paper:
2. It generates a modified PDB file where the temperature factor (bfactor) is replaced by the pathogenicity predicted by AlphaMissense, allowing the effect to be visualised with Chimerax, as in [Figure 3E](https://www.science.org/doi/10.1126/science.adg7492#F3) of the paper:

<img src="resources/img/3e.jpeg" width="400">

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## How to use it

Generate usage is:
General usage is:
```
usage: pymissense[-h] [--tsv TSV] [--pdbpath PDBPATH] [--maxacid MAXACID] uniprot_id output_path
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options:
-h, --help show this help message and exit
--tsv TSV You can provide the path to the tsv file if you want to skip the download. (default: None)
--pdbpath PDBPATH If defined, it will write the pathogencity as bfactor in that PDB. If its not defined or not existing it will instead download the alphafold predicted PDB (default: None)
--pdbpath PDBPATH If defined, it will write the pathogenicity as bfactor in that PDB. If its not defined or not existing it will instead download the alphafold predicted PDB (default: None)
--maxacid MAXACID Maximum squence number to use in the plot. (default: None)
```

You can provide the optional argument `--pdbpath` if you want to use an experimental PDB, otherwise it will instead download the alphafold predicted PDB.
You can give the optional argument `--pdbpath` if you want to use an experimental PDB, otherwise it will download the alphafold predicted PDB instead. With `--tsv` you can provide the decompressed AlphaMissense database, so that pymissense does not need to download it.

For example, to reproduce [Figure 3D](https://www.science.org/doi/10.1126/science.adg7492#F3) (the middle one) and generates the PDB shown in [Figure 3E](https://www.science.org/doi/10.1126/science.adg7492#F3) do:
For example, to reproduce [Figure 3D](https://www.science.org/doi/10.1126/science.adg7492#F3) (the middle one) and generate the PDB shown in [Figure 3E](https://www.science.org/doi/10.1126/science.adg7492#F3) do:

```
wget https://files.rcsb.org/download/7UPI.pdb
pymissense Q9UQ13 out --maxacid 200 --pdbpath 7upi.pdb
```

Note that they displayed only the first 200 amino acids in the plots and showed the pathogencity with the experimental PDB `7upi`.
Note that only the first 200 amino acids are shown in the plots and the pathogenicity is shown with the experimental PDB `7upi`.

## Contributions

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