Table 1.
Mutations in ASPM Causing Premature Protein Truncation
| Mutation | Haplotype | Location | Alterationa | ASPM Sizeb | Familiesc | Population |
| 349C→T | A | Exon 2 | Immediate stop | 116 | 1 | Northern Pakistani |
| 1258delTCTCAAGd | B1e | Exon 3 | Frameshift, ORF incorporating 31 aa then stop | 450 | 2 | Northern Pakistani |
| 9190C→T | B2e | Exon 21 | Immediate stop | 3,063 | 1 | Northern Pakistani |
| IVS9+5G→T (2936+5G→T) | B3e | Intron 7 | Removes splice-donor site, additional 2 aa then stop | 981 | 1 | Northern Pakistani |
| 1990C→T | C1f | Exon 4 | Immediate stop | 663 | 1 | Northern Pakistani |
| 8508delGA | C2f | Exon 18 | Frameshift, ORF incorporating 33 aa then stop | 2,869 | 1 | Northern Pakistani |
| 3082G→A | D | Exon 11 | Removes splice-donor site, additional 3 aa then stop | 1,030 | 1 | Northern Pakistani |
| 4581delA | E | Exon 18 | Frameshift, ORF incorporating 23 aa then stop | 1,550 | 1 | Northern Pakistani |
| 4795C→T | F | Exon 18 | Immediate stop | 1,598 | 1 | Northern Pakistani |
| 7895C→T | G | Exon 18 | Frameshift, ORF incorporating 15 aa then stop | 2,634 | 1 | Northern Pakistani |
| 9159delAd | H | Exon 21 | Frameshift, ORF incorporating 4 aa then stop | 3,056 | 1 | Northern Pakistani |
| 9557C→G | I | Exon 23 | Immediate stop | 3,185 | 2 | Northern Pakistani |
| IVS25+1G→T (9984+1G→T) | J | Intron 25 | Removes splice-donor site, additional 29 aa then stop | 3,357 | 1 | Northern Pakistani |
| 3663delGg | K | Exon 15 | Frameshift, ORF incorporating 12 aa then stop | 1,223 | 2 | Northern Pakistani |
| 3811C→T | Exon 16 | Immediate stop | 1,270 | 2 | Dutch | |
| 3527C→G | Exon 14 | Immediate stop | 1,175 | 1 | Jordanian | |
| 1959delCAAA | Exon 4 | Frameshift, ORF incorporating 13 aa then stop | 666 | 1 | Saudi Arabian | |
| 1727delAGg | Exon 3 | Frameshift, ORF incorporating 32 aa then stop | 607 | 1 | Yemeni | |
| 9754delAg | Exon 24 | Frameshift, ORF incorporating 9 aa then stop | 3,260 | 1 | Yemeni |
a
Mechanism of truncation caused by mutation.
b
Predicted size in amino acids of the truncated protein product.
c
Number of families with mutation.
d
Mutations previously reported in other northern Pakistani families (Bond et al. 2002).
e
Three mutations were associated with the haplotype B background.
f
Two mutations were associated with the haplotype C background.
g
Mutations associated with severe mental retardation.