The
UMD-TGFBR1
mutations database
The gene
TGFBR1 gene maps/is located in 9q22.33 (Jonhson et al., 1995) and contains 9 exons (Velluci et Reiss, 1997).
It was isolated by PCR analysis using degenerate primers based on conserved regions of ser/thr kinase receptors (Franzén et al., 1993).
Mutation names are given according to the HGVS nomenclature guidelines and numbered with respect to the TGFBR1 gene cDNA sequence (+1=A of ATG) (variant 1: NM_004612.2) (variant 2: NM_001130916.1; Homo sapiens transforming growth factor, beta receptor II (TGFBR1), transcript variant 1/2, mRNA).
Table of exon coordinates (Show/Hide)
From base # |
To base # |
|
| Exon #1 | 1 |
97 |
| Exon #2 | 98 |
343 |
| Exon #3 | 344 |
574 |
| Exon #4 | 575 |
805 |
| Exon #5 | 806 |
973 |
| Exon #6 | 974 |
1130 |
| Exon #7 | 1131 |
1255 |
| Exon #8 | 1256 |
1386 |
| Exon #9 | 1387 |
1512 |
TGFBR1 coding sequence (Show/Hide)
Exon phasing of the TGFBR1 gene (Show/Hide)
