Table 3.

Mutations found in REEP1

	Nucleotide exchange	Amino acid exchange
SPG31 exon 1	none
SPG31 exon 2	c.60delG	p.6fsX
	c.105+6T>C
SPG31 exon 3	c.164C>A	p.Thr55Lys
SPG31 exon 4	c.183_184insCT	p.7fsX
SPG31 exon 5	c.320T>C	p.Leu107Pro
	c.340_347delAGTTACGA	p.69fsX,
	c.345C>A	p.Try115X
SPG31 exon 6	c.419_420insG	p.45fsX
	c.478delA	p.62fsX
SPG31 exon 7	c.606+43G>T*

* previously described