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Table 2 Alternate splice variants of human GBF1, BIG1 and BIG2 a,b

From: The domain architecture of large guanine nucleotide exchange factors for the small GTP-binding protein Arf

  Change in protein Apparent cause of variation in transcript
GBF1 Extra Q at 337, 55 residues upstream of HUS domain Insertion of 3 nucleotides (nt) resulting from use of alternate 3' acceptor site within intron during splicing of exons 10 and 11
  New Ser and loss of 14 residues at 613, between HUS and Sec7 domains Loss of 36 nt resulting from use of alternate 5' donor site within exon 15 during splicing with exon 16
  Loss of VSQD at 1494, 38 residues upstream of HDS3 Loss of 12 nt resulting from use of alternate 5' donor site within exon 33 during splicing with exon 34
  Frame-shift at 1625 causing loss of last 19 residues of HDS3 Intron retention between exons 36 and 37 leading to frame shift and premature termination
  Loss of 38 residues starting at 1784, near C-terminus Loss of 114 nt resulting from use of novel cryptic splice donor and acceptor sites within exon 40.
BIG1 Frame-shift at 1340, 32 residues upstream of HDS3 Loss of 59 nt resulting from use of alternate 5' donor site within exon 28 during splicing with exon 29
  Loss of VSEKPL at 1557, 68 residues downstream of HDS3 Loss of 18 nt resulting from use of alternate 5' donor site within exon 33 during splicing to exon 34
  New T and loss of 33 residues at 1607, 118 residues downstream of HDS3 Loss of 96 nt resulting from use of alternate 3' acceptor site within exon 35 during splicing with exon 34
BIG2 Frame-shift at 1542, 106 residues downstream of HDS3 Loss of exon 35 resulting from splicing of 5'donor site of exon 34 with 3' acceptor site of exon 36
  1. aAll changes were expressed relative to the reference sequence stored under accession number NM_004193 (hGBF1), NM_006421 (hBIG1) and NM_006420.1 (hBIG2).
  2. bAll variants are supported by one or more cDNA/ESTs as detailed in the Aceview for each gene that can be obtained at [38].