Homo sapiens: Annexe : région avoisinant le 2p21 (SPG4)

The 17 vertical lines with a number below represent the exon boundaries. The initiator ATG codon and the stop codon are indicated in red in both the nucleoti de and amino acid sequence. The five mutations identified so far, including skip ping of exon 16, are indicated in red italics.The polyadenylation site is in und erlined italics. The putative nuclear localization signal RGKKK and the three co nserved domains 92, 179 and 6226 predicted by the sequence analysis in ProDom ar e indicated in blue, between amino acid positions 7-11, 342-409, 411-509 and 512
 599 respectively. The four motifs predicted by the sequence comparison in the P rosite database are indicated in green : two leucine-zipper motifs at amino acid positions 50-78 and 508-529, the ATP-binding site (also called Walker motif A) a t amino acid position 382-389 and a helix-loop-helix dimerization domain between amino acid positions 478 and 486. Walker motifs A and B, « GPPGNGKT » and « IIFIDE » respectively, and minimal AAA consensus are underlined