Case | Ethnic origin | 1-150/** | Nucleotide | Exon | Mutation | Predicted effect | Domain |
1 | Ghana | ** | 50 | 2 | del t1-152 | L 17 Fs and stop | |
2 | Italy | ** | 283 | 2 | t>c | W 94 R | |
3 | Italy | ** | 657 | 3 | c>a | Y 219 stop | 2nd TM |
4 | Italy | ** | 658 | 3 | g>a | G 220 S | 2nd TM |
5 | Italy | 1-150 | 662 | 3 | c>t | T221I | 2nd TM |
1-150 | 673 | 3 | c>t1-152 | R225W | 2nd TM | ||
6 | Italy | 1-150 | 694 | 3 | c>t | R 232 C | |
1-150 | 1182 | 3 | ins t | G 394 Fs and stop | EGF-like | ||
7 | Turkey | ** | 1122 | 3 | g>a1-152 | W 374 stop | EGF-like |
8 | Turkey | ** | 1122 | 3 | g>a | W 374 stop | EGF-like |
91-151 | Turkey | ** | 1122 | 3 | g>a | W374 stop | EGF-like |
10 | Turkey | ** | 1122 | 3 | g>a | W374 stop | EGF-like |
↵1-150 /** = heterozygous/homozygous mutation.
↵1-151 The same mutation was also observed in his brother with an identical clinical picture.
↵1-152 These mutations have been previously described by Steppet al.10
2nd TM = second transmembrane domain.
EGF-like = epidermal growth factor-like domain.
Fs = frameshift.