Source:http://linkedlifedata.com/resource/umls/id/C0599155
MSH: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed),NCI: A single base pair substitution that alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense mutations will alter the function of the protein.,NCI: A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.