A new mega-database of half a million mutations may flag new ways of treating genetic disease, scientists say.

Missense mutations are genetic alterations arising from the substitution of a single base pair (bp) in an amino acid (aa) sequence with a different base pair, resulting in the translation of a ...

The work helps explain why minimal changes in the human genome, also known as missense mutations ... It is caused by mutations in the MECP2 gene, which produces a protein responsible for ...

This DNA has suffered a mutation, either through mis-copying (when its parent cell divided), or through the damaging effects of exposure to radiation or a chemical carcinogen.

Sequencing of phenotyped clinical subjects will soon become a method of choice in studies of the genetic causes of Mendelian ... 13,032 human disease-causing mutations from UniProt and 8,946 ...

In a Phase I/II trial, patients with X-linked chronic granulomatous disease will receive a treatment created using a new ...

Childhood or young adult onset patients usually with acromegaly can also have mutations in the AIP gene without a known family history of pituitary adenoma. DNA (Deoxyribose Nucleic Acid) is the ...

"Missense" mutations — changes in a DNA sequence that swap one amino acid for another — in nearly 5,000 human proteins are known to cause genetic diseases, such as Huntington's disease and ...