## Genes and their evolutionary background that are involved in diseases

#### Common diseases caused by point mutations

- Cystic Fibrosis  

- Familial hypercholesterolemia 

- Hemophilia B

- Phenylketonuria 

- Autosomal dominant polycystic kidney disease (ADPKD) 

- Sickle cell disease

- Tay–Sachs disease 

#### Mutations and phenotypes that provide evolutionary advantages/differations

- Thalassemia

- P450 genes

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#### Cystic Fibrosis

- CFTR gene: deletion of a single amino-acid

- CFTR wild type sequence: [download dataset](https://www.ncbi.nlm.nih.gov/gene/1080)

- CFTR mutation:

  - most famous mutation[^2]: c.1521_1523delCTT, p.Phe508del

#### Familial hypercholesterolemia

- APOB gene: Apolipoprotein B

- APOB wild type sequence: [download dataset](https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=DetailsSearch&Term=338)

- APOB mutation: 

  - most famous mutation[^1]: APOB: p. R3527Q

#### Hemophilia B

- F9 gene: Factor IX

- F9 wild type sequence: [download dataset](https://www.ncbi.nlm.nih.gov/gene/2158)

- F9 mutations[^3]: [view missense mutations](https://view.officeapps.live.com/op/view.aspx?src=https%3A%2F%2Fwww.cdc.gov%2Fncbddd%2Fhemophilia%2Fdocuments%2Ff9-chbmp-v5-5-5-15.xlsx&wdOrigin=BROWSELINK)

[^1]: https://academic.oup.com/hmg/article/23/7/1817/653825

[^2]: https://www.cff.org/research-clinical-trials/types-cftr-mutations

[^3]: https://www.cdc.gov/ncbddd/hemophilia/champs.html