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

Cystic Fibrosis

• CFTR gene: deletion of a single amino-acid
• CFTR wild type sequence: download dataset
• CFTR mutation:
• most famous mutation²: c.1521_1523delCTT, p.Phe508del

Familial hypercholesterolemia

• APOB gene: Apolipoprotein B
• APOB wild type sequence: download dataset
• APOB mutation:
• most famous mutation¹: APOB: p. R3527Q

Hemophilia B

• F9 gene: Factor IX
• F9 wild type sequence: download dataset
• F9 mutations³: view missense mutations