Ile105Val

Ile105Val is a missense single-nucleotide variant notation indicating that isoleucine (Ile) at residue 105 is replaced by valine (Val) in a protein sequence. The designation I105V or Ile105Val is used to describe the specific amino acid substitution at position 105, but it is important to note that this nomenclature applies to a particular protein; the same substitution can occur in different proteins with different functional consequences.

The functional impact of Ile105Val is highly context-dependent. Isoleucine and valine are chemically similar hydrophobic amino acids, so many Ile105Val substitutions have little or no effect on protein stability or function. However, if residue 105 lies within a critical region—such as an active site, a ligand-binding interface, or a structurally important core—an Ile→Val change can influence folding, stability, interactions, or activity.

Variants named Ile105Val can be observed in different genes across populations. Consequently, there is no universal phenotype associated with Ile105Val without specifying the gene. Such variants are typically catalogued in public databases like dbSNP, ClinVar, and population genomics resources (e.g., gnomAD), which provide allele frequencies and context for interpretation.

Detection and interpretation typically involve DNA sequencing to confirm the substitution, conservation analysis to assess evolutionary pressure on the residue, and in silico prediction tools (such as SIFT or PolyPhen-2) alongside experimental assays to evaluate effects on structure and function. Clinical relevance, when explored, depends on the gene involved and the strength of available evidence linking the variant to disease risk, drug response, or other phenotypes.