Note: The original file submitted is modified to provide links to the results.

Table 1: Mutations Detected in SPG4

Number Mutation


Location Nucleotide changea Approved mutation


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