Table 1.
Novel Mutations in the ASM Gene Causing Type B NPD
| Exon andMutation | cDNAAlterationa | GenomicAlterationb |
| 1: | ||
| G21X | C→T, nt 61 | nt 61 |
| D49V | A→T, nt 156 | nt 146 |
| C92W | C→G, nt 276 | nt 276 |
| 2: | ||
| L137P | T→C, nt 409 | nt 875 |
| C157R | T→C, nt 469 | nt 934 |
| fsD169 | delG, nt 507 | nt 970 |
| W174X | G→A, nt 522 | nt 986 |
| A196P | G→C, nt 586 | nt 1051 |
| R200C | C→T, nt 598 | nt 1063 |
| L225M | C→A, nt 673 | nt 1138 |
| R228C | C→T, nt 682 | nt 1147 |
| G232D | G→A, nt 695 | nt 1160 |
| G245S | G→A, nt 733 | nt 1198 |
| S248R | C→A, nt 744 | nt 1209 |
| R289H | G→A, nt 866 | nt 1331 |
| fsS321 | delG, nt 962 | nt 1427 |
| P323A | C→G, nt 967 | nt 1432 |
| P330R | C→G, nt 989 | nt 1454 |
| A357D | C→A, nt 1070 | nt 1535 |
| 3: | ||
| fsF366 | insT, nt 1096 | nt 2621 |
| R376H | G→A, nt 1128 | nt 2652 |
| R376L | G→T, nt 1128 | nt 2652 |
| S379P | T→C, nt 1135 | nt 2661 |
| fsL380 | delC, nt 1140 | nt 2663 |
| 4: | ||
| A413V | C→T, nt 1239 | nt 2762 |
| H421Y | C→T, nt 1261 | nt 3014 |
| C431R | T→C, nt 1291 | nt 3045 |
| L432P | T→C, nt 1295 | nt 3049 |
| W435C | G→C, nt 1305 | nt 3059 |
| 5: | ||
| A452V | C→T, nt 1355 | nt 3311 |
| G456D | G→A, nt 1367 | nt 3323 |
| R474W | C→T, nt 1420 | nt 3376 |
| P475L | C→T, nt 1424 | nt 3380 |
| F480L | C→A, nt 1440 | nt 3396 |
| A485V | C→T, nt 1454 | nt 3410 |
| Y488N | T→A, nt 1462 | nt 3432 |
| 6: | ||
| G494S | G→A, nt 1480 | nt 3603 |
| R496C | C→T, nt 1486 | nt 3609 |
| H514Q | T→G, nt 1542 | nt 3665 |
| E515V | A→T, nt 1544 | nt 3667 |
| fsI530 | delA, nt 1589 | nt 3702 |
| W533R | T→C, nt 1609 | nt 3709 |
| L549P | T→C, nt 1666 | nt 3758 |
| K576N | G→C, nt 1728 | nt 3840 |
| R600H | G→A, nt 1799 | nt 3911 |
| R600P | G→C, nt 1799 | nt 3911 |