Table 2.
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 |