SMO NP_005622.1:p.E518K

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in amino acid residue at position 518 in protein smoothened where glutamic acid has been replaced by arginine.

**Synonyms:** - NP_005622.1:p.E518K - NP_005622.1:p.Gln518Lys - Protein Gx E518K - Protein Gx Gln518Lys - Protein Smoothened E518K - Protein Smoothened Gln518Lys - SMO E518K - SMO Gln518Lys - SMO NP_005622.1:p.Gln518Lys - SMO p.E518K - SMO p.Gln518Lys - SMOH E518K - SMOH Gln518Lys - Smoothened Homolog E518K - Smoothened Homolog Gln518Lys