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 |