N79S

N79S is a designation used in protein sequence variant notation to indicate a missense mutation in which the amino acid asparagine (N) at position 79 is replaced by serine (S). This shorthand is used across many different genes and proteins, so the exact biological effect depends on the specific protein in which it occurs.

In practice, the full protein-level notation is often written as p.N79S in HGVS (Human Genome Variation Society) style, and the shorter form N79S is common in lists and databases. The interpretation of N79S, including its potential impact, varies with the context of the gene, transcript, and resulting protein sequence.

Possible consequences of the N79S substitution depend on the protein’s structure and function. It can alter local charge, polarity, or hydrogen-bonding patterns, potentially affecting stability, folding, or activity. If residue 79 lies within an N-linked glycosylation motif (the sequence N-X-S/T, where X is any amino acid except proline), changing N to S could disrupt glycosylation at that site, with downstream effects on folding, trafficking, or cell-surface expression. In other contexts, N79S may be tolerated and functionally neutral, or it could be deleterious if the asparagine plays a critical role.

Detection and interpretation typically involve sequencing or proteomic analysis, followed by annotation in variant databases such as ClinVar or UniProt. Computational predictions and experimental assays are commonly used to assess pathogenicity. Because N79S can occur in any number of proteins, disease relevance is gene- and context-specific.

See also: HGVS nomenclature, missense mutation, N-linked glycosylation, protein variant databases.