Table 1.

Mutations identified in spastin in families with SPG4 loci

FamilyLocation*Mutation (codon change)Amino acid change
* Location corresponds to exons of KIAA1083 complementary DNA.
PTC = premature termination codon.
581Exon 1334G→T (GAG→TAG)Glu112Stop
1252Exon 4710insAFrameshift at amino acid 237; PTC at amino acid position 258 (+21 aberrant amino acid)
9803Exon 91195C→T (CGA→TAG)Arg399Stop
9998Exon 91211C→T (TCT→TTT)Ser404Phe
9329Exon 141583G→A (GGT→GAT)Gly527Asp