Table 2 of Kloeckener-Gruissem, Mol Vis 2006; 12:350-355.

Table 2. CSPG2 sequence alterations

Sequence alterations in CSPG2 of index patient IV/49, affected father III/22 and unaffected mother II/23 (Figure 1). Nucleotide position based on cDNA and protein changes are listed. The disease-causing mutation in intron 8 is printed in bold. Substitutions (>) and insertions (ins) are indicated. In the index patient, all alterations except the disease-causing change in intron 8 appear homozygous. Known single nucleotide polymorphisms (SNPs) are listed by their identification number (dbSNP). Reference sequence for CSPG2 is from GenBank accession number NM_004385.

                                               Sequence results
                              Protein            Affected   Unaffected      SNP
Location    SNP/DNA change     change    Index    father      mother     reference
---------   ---------------   --------   -----   --------   ----------   ----------
Promoter    -648A>G                       G                              novel
Exon 3      c.587C>T          p.T116T     T                              rs12332199
Exon 5      c.884G>A          p.V215V     A      G/A         G/A         rs4470745
Exon 8      c.1601G>A         p.Q454Q     A      G/A         A           rs2548541
Exon 8      c.1825A>G         p.K529R     G      A/G         A/G         rs309559
Exon 8      c.2755G>A         p.R839H     A      A           A           rs188703
Exon 8      c.3086T>C         p.G949G     C      T/C                     rs309557
Exon 8      c.4001A>G         p.R1254R    G      A/G         A/G         rs160279
Exon 8      c.4180T>A         p.F1314Y    A      T/A         T/A         rs160278
Exon 8      c.6087G>T         p.D1950Y    T      G/T         G/T         rs160277
Exon 14     c.7160C>T         p.V2307V    T      T           T           rs308365
Intron 8    c.9265+1G>A                   G/A    G/A         G           novel
Intron 9    c.9380-181G>A                 A                              rs7728751
Intron 9    c.9380-75insACT               ACT    ---/ACT     ---/ACT     novel
Intron 10   c.9513-63T>A                  A                              rs6873404
Intron 11   c.9653-149A>G                 G      A/G         A/G         novel

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