Table 1: Mutations Detected in SPG4


Number Mutation


type


Location Nucleotide changea Approved mutation


nomenclatureb


Predicted protein change


2 Nonsense exon 1 334G>T E112X


3 Splice site intron 6 1005-1G>T ?cryptic splice site recognition


4 Frameshift exon 8 1134_1135delGT fs379-391X392


5 Missense exon 13 1508G>T R503L


6 Frameshift exon 14 1577_1580delGAAG fs526-527X528


7 Frameshift exon 16 1720delG fs574-576X577


8 Splice site intron 16 1728+2T>A ?skipping of exon 16