8bp deletion (TAAAGGAG) in the second exon. This is predicted to produce a frameshift after 198 of the 606 amino acids, followed by three missense codons and a premature stop. The truncated protein would not contain the putative GTP-binding domain.
8 bp deletion causes a frameshift after 198 aa.
Lefevre.
Maternal germline clonal analysis demonstrates cell lethality in homozygous clones.