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Table 3 Mutations found in REEP1

From: Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)

 

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*

 
  1. * previously described
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BMC Medical Genetics

ISSN: 1471-2350

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