That point mutation in TKTL1 means that the Neanderthal version of the protein has a lysine where the modern human version has an arginine. After conducting experiments with fetal human neocortex ...

They can also appear spontaneously during the replication of DNA. Mutations generally fall into two types: point mutations and chromosomal aberrations. In point mutations, one base pair is changed.

Around 90% of all EGFR mutations are either an EGFR 19 deletion or an EGFR L858R point mutation, according to a Korean study from 2020. A literature review from 2021 found that as many as 12% of ...

We used a novel geometric hyperbranched RCA (HRCA) reaction to detect point mutations in small amounts of human genomic DNA in solution. Furthermore, linear RCA, using pre-formed circles as ...

These cancers have mutations in one of two genes, FOCAD or TCC37. The finding, described in Nature, is a new synthetic lethality—a pair of genetic changes that together kill cancer cells.

Mutations can occur when adenine is altered or mismatched with other bases. For example, the deamination of adenine can lead to the formation of hypoxanthine, which can pair with cytosine instead of ...