What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...

A mutation that prevents certain amino acids from entering neurons leads to the cells’ death early in brain development, according to a new study in mice. The findings provide clues to what happens in ...

In genomes, three letters or bases of DNA encode an amino acid. Amino acids are then strung together by the cell to create proteins. There is some redundancy in that genetic code, but there are single ...

GRB2-SH3 is a protein with 34 amino acids, each which can be mutated into 19 different amino acids. This can result in 17 billion different combinations of the protein if only a single change allowed ...

Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the ...

A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers used ...

Sickle Cell Disease is an awful genetic disease that disproportionally affects black people. It's caused by a single-point mutation in DNA, which results in a modified hemoglobin protein, differing by ...