Description of DPC4 mutations identified in JPS patients
| Patient/family | Mutation | Predicted effect |
| SV | 11bp deletion (GTCCACTGAAG) at nucleotide 516 (exon 4) | Frameshift creating stop codon at nucleotide 561 |
| AF | CGC to TGC, at nucleotide 1083 (exon 8) | Arg to Cys |
| 17 | 2 bp deletion (CC) at nucleotide 1564 (exon 11) | Frameshift creating stop codon at nucleotide 1575 |
| 20 | 9 bp deletion (AAATGGAGC) at nucleotide 189 (exon 1) | Deletion of amino acids 64-66 |
| BL | CGA to TGA at nucleotide 1333 (exon 10) | Substitution creating stop codon |