Glu6Lys

Glu6Lys is a shorthand used in protein mutation notation to describe a single amino acid substitution at residue 6, where glutamic acid (Glu, E) is replaced by lysine (Lys, K). This missense mutation is typically written as E6K in single-letter code. The specific consequences depend on the protein and its context.

In general, replacing a negatively charged glutamate with a positively charged lysine alters local charge, polarity, and potential hydrogen-bonding patterns. This can disrupt salt bridges, modify pKa of nearby residues, affect folding stability, solubility, or interactions with substrates, cofactors, or other proteins. Lysine can also introduce new post-translational modification sites, such as ubiquitination or acetylation, which may influence protein turnover. The effects are highly context-dependent and may range from tolerated or stabilizing to deleterious, potentially reducing activity or promoting misfolding or aggregation.

Identification typically relies on DNA or cDNA sequencing to detect the nucleotide change corresponding to the amino acid substitution. Confirmation at the protein level may use mass spectrometry or peptide mapping, and functional effects are investigated with biochemical assays and structural studies (such as X-ray crystallography, NMR, or cryo-EM). Because Glu6Lys can occur in different proteins, there is no single disease association tied to the mutation; interpretation requires knowledge of the specific protein, its structure, and its biological role.