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

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.

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

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