Question: Amino Acid Residues Changes/Mutation Causing Diseases
gravatar for Thaman
9.8 years ago by
Thaman3.3k wrote:

Hi Everyone,

I have been recently thinking to do some project of my own. I am getting more interested nowadays in bio-scripting and developing unique application with specific functionality. After brainstorming for long weeks I thought about one project, but dont know whether it's feasible or not. I dont have depth knowledge of moleculer level but idea is all I have got right now. Recently, in one lecture I heard about amino acid residues changes/mutation leads to diseases. For example, "Sickle cell anemia" an inherited blood disorder disease, where hemoblogin is defective. In normal Hemoglobin (Hb) where amino acid residue Glutamine is change into Valine at specific residues number.

My idea is finding all diseases which is caused by residues changes in specific amino acid chain (Polymer). I want to extract all information remotely or save locally in database for extending purpose.

Application Functionality/Approach

  1. User will enter diseases like (sickle cell anemia) in search query

  2. Result will be a. Normal sequence/gene and their name when it wasn't defective/mutated

    b. Two amino acid chain where one is normal and another is disorder/mutated

    c. Highlighting disordered/changed amino acids and number of amino acid.

    d. If possible displaying normal/defective structure of searched disorder diseases

    e. Letting user change amino acid residues in a chain and if instantly matches to any records in database then show disordered/mutated disease.

    f. Detail information about defective/mutated disease

    g. Link ID to other databases if available

    h. References

How can I find all genetic disorder diseases related due to change in amino acid? Which databases (NCBI, Swissprot, Uniprot, HGNC, OMIM) is best for my idea? Are there other databases where I can extract all disorder information at once so I can save them and identify residues changes? Are there already this kinds of project which functionality is same like mine?

At the same time, I am wondering whether my idea is feasible or not. To carry out this project what resources I have to go through or have prerequisite knowledge?

Thanks for your concern

genetics disease • 7.7k views
ADD COMMENTlink modified 9.4 years ago by Tim330 • written 9.8 years ago by Thaman3.3k
gravatar for Pierre Lindenbaum
9.8 years ago by
France/Nantes/Institut du Thorax - INSERM UMR1087
Pierre Lindenbaum129k wrote:

A quick search in pubmed shows that it has already been done before for a restricted number of genes e.g.:

Something like SNPedia have also been used to store this kind of information Gene/Phenotype: see

See also this previous question on Biostar: Disease Associated Snps

Hope it helps

ADD COMMENTlink modified 11 months ago by RamRS28k • written 9.8 years ago by Pierre Lindenbaum129k
gravatar for Tim
9.8 years ago by
Nijmegen, the Netherlands
Tim330 wrote:

For UniProt have a look at It'll make parsing a lot easier..

ADD COMMENTlink written 9.8 years ago by Tim330

Tim, Thanks a lot for this.

ADD REPLYlink written 9.8 years ago by Khader Shameer18k

@Kim, it was really nice work

ADD REPLYlink written 9.8 years ago by Thaman3.3k
gravatar for Istvan Albert
9.8 years ago by
Istvan Albert ♦♦ 84k
University Park, USA
Istvan Albert ♦♦ 84k wrote:

Try it out definitely.

The only note that I want to make is that in my opinion sickle cell anemia is the exception rather then the rule when it comes to associating diseases with mutations.

The way by which the mutation alters the oxygen carrying capacity of the haemoglobin is mechanistic (alters the shape) so it was easier to observe and correlate it to the mutated base. Most other diseases have far more subtle and distant actions that cannot be directly associated with the cause. So be ready to deal with less clear associations.

Don't take this as discouragement and please do try out your idea, and you can start with lookin at questions linked to by Pierre.

ADD COMMENTlink written 9.8 years ago by Istvan Albert ♦♦ 84k
gravatar for Rm
9.8 years ago by
Danville, PA
Rm8.0k wrote:

TinyGRAP database: a bioinformatics tool to mine G-protein-coupled receptor mutant data

It Attempts similar to what you are looking for.

ADD COMMENTlink written 9.8 years ago by Rm8.0k
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