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. 2009 Jul 19;18(20):3822–3831. doi: 10.1093/hmg/ddp325

Table 2.

Summary of experimental results

Human L1-CAM mutation Protein domain affected Amino acid change Homophilic S2 cell aggregation Adhesion-depend, EGFR activation in S2 cells Protein expression in vivo Cell surface expression in vivo Genetic rescue of BM axonal pathfinding defect
Wild-type wt wt wt wt Rescue
H1 Fn 5 Y1070C wt Reduced wt wt No rescue
H38 Ig3 E309K wt Reduced <wt Partially intracellular No rescue