Eleven single nucleotide polymorphisms and one triple nucleotide insertion of the human TGF-beta III receptor gene.

We found 11 single nucleotide polymorphisms and one triple nucleotide insertion in the cDNA of the human transforming growth factor beta (TGF-beta) III receptor gene (TGFBR3) located on 1p33-p32, encoding beta-glycan, a component of the TGF-beta receptor system. Inside the 5' untranslated region (UTR), a G-->A polymorphism was identified at position 311. In the open reading frame (ORF), a non-conservative T-->C polymorphism was identified at position 392, and three conservative polymorphisms were found at positions 563 (G-->A), 1548 (G-->A), and 2370 (C-->T). A triple nucleotide insertion (GCA) was identified at position 1419. Inside the 3' UTR, six polymorphisms were identified: four G-->A, at positions 2918, 3055, 3098, and 3355; one T-->A, at position 3183; and one G-->C, at position 3966. In addition to these changes, some divergences from the published sequence were observed in all 12 chromosomes tested. These included, in the ORF, an additional C after position 555, two additional G after position 563, and an additional T after position 1388. No T was found at position 1394. The alterations translate to a changed amino acid sequence. Inside the 3' UTR, additional discrepancies were identified. The discovered changes and polymorphisms may be useful for further genetic studies of TGFBR3 receptor deficiencies.