Mutations found in the sulphamidase gene from patients with MPS IIIA in this study
| Exon (fragment) | Mutation1-150 | Nucleotide alteration1-150 | Protein alteration | SSCP shift | RE test | ACRS test (table 2) |
| 2 (2) | D32G1-151 | GAC→GGC 107A>G | Asp→Gly | − | −HincII | |
| 2 (2) | S66W | TCG→TGG 209C>G | Ser→Trp | − | +BstNI | |
| 2 (2) | R74C | CGC→TGC 232C>T | Arg→Cys | + 4°C | −BstUI | |
| 2 (2) | T79P | ACT→CCT 247A>C | Thr→Pro | + 4°C | +BstNI | |
| 3 (3) | H84Y1-151 | CAT→TAT 262C>T | His→Tyr | + 4°C | −Fnu4HI | |
| 4 (4) | G122R | GGG→AGG 376G>A | Gly→Arg | + 4°C | +DdeI | |
| 4 (4) | R150W1-151 | CGG→TGG 460C>T | Arg→Trp | + 4°C | −AciI | |
| 6 (6) | R233X1-151 | CGA→TGA 709C>T | Arg→Stop | + 4°C | −AvaI | |
| 6 (6) | D235N1-151 | GAC→AAC 715G>A | Asp→Asn | + RT | −TaqI | |
| 6 (6) | R245H | CGC→CAC 746G>A | Arg→His | + 4°C | −EagI | |
| 7 (7) | D273N1-151 | GAC→AAC 829G>A | Asp→Asn | + 4°C | −BsiEI | |
| 7 (7) | S298P | TCC→CCC 904T>C | Ser→Pro | + 4°C | +MaeIII | |
| 8 (8a) | I322S1-151 | ATC→AGC 977T>G | Ile→Ser | + 4°C | +AluI | |
| 8 (8a) | 1039insC | 1 bp ins | 158 altered aa, term | + 4°C | −BstXI | |
| 8 (8a) | E355K1-151 | GAG→AAG 1075G>A | Glu→Lys | + 4°C | −Bsp1286I | |
| 8 (8a) | 1091delC | 1 bp del | 51 altered aa, term | + 4°C | +BstXI | |
| 8 (8a) | E369X1-151 | GAG→TAG 1117G>T | Glu→Stop | + 4°C | +BfaI | |
| 8 (8a) | Y374H1-151 | TAC→CAC 1132T>C | Tyr→His | − | +Sau96I | |
| 8 (8a) | 1156-1157ins61-151 | 6 bp ins AGCGCC | ins Gln Arg | + 4°C | +HaeII | |
| 8 (8b) | 1284del11 | 11 bp del | 1 altered aa, term | + 4°C | −RsaI | |
| 8 (8b) | 1307del9 | 9 bp del | del 3 aa | + 4°C | −BstUI | |
| 8 (8b) | R433W1-151 | CGG→TGG 1309C>T | Arg→Trp | + RT | +BsrI | |
| 8 (8b) | V486F1-151 | GTC→TTC 1468G>T | Val→Phe | − | −BsaHI |