TPMT*2 Allele

**Semantic type:** Gene or Genome

**Definition:** Human TPMT*2 allele is located in the vicinity of 6p22.3 and is approximately 26 kb in length. This allele, a variant form of the TPMT wild-type allele, encodes thiopurine S-methyltransferase protein. TPMT*2 allele exhibits a clinically-relevant SNP (c.393G>C) that results in an A80P coding change. This alteration in protein sequence severely decreases the enzymatic activity of the protein encoded by this allelic variant.

**Synonyms:** - TPMT, A80P - TPMT, c.393C>G - TPMT-2 Allele