Table 2

Phenotype correlations with CTSC mutations reported to date

Mutation2-150 Predicted effect Location Phenotype2-151 Reference
856C→TQ286XExon 6PLS 16, 28
1047delAFrameshift, termination at aa 349Exon 7PLS 16
1028-1029delCTIntroduction of premature termination codonExon 7PLS 16
1286G→AW429XExon 7PLS 16
1019A→GY340CExon 7PLSHart, unpublished data
1040A→GY347CExon 7PPPThis report
PLS 44
755A→TQ252LExon 5PLS 44
1015C→TR339CExon 7PLS44, Hart, unpublished data
745G→TV249FExon 5PLS 44
901G→AG301SExon 7PLS 44
628C→TR210XExon 4PLS 44
815G→CR272PExon 6PLS 44
IVS3-1G→AAltered splicingIntron 3PLS 44
857A→GQ286RExon 6HMS 28
  • 2-150 cDNA numbering considering the initiator Met codon as nucleotide +1.

  • 2-151 Phenotype symbols: PLS, Papillon-Lefèvre syndrome; PPP, prepubertal periodontitis; HMS, Haim-Munk syndrome.