46bp deletion (AGGAGCTAGTGCGAGCCGAGAACGAGGCATTTCTCGACTGGCGCCG) in the second exon. This is predicted to produce a frameshift after 126 of the 606 amino acids, followed by 12 missense codons and a premature stop. The truncated protein would not contain the putative GTP-binding domain.
46 bp deletion causes a frameshift after 126 aa.
Lefevre.