TABLE 1

DNA sequence variations in the ASPM gene of humans

ExonPositionAP-1AP-2AA-1AA-2AA-3EU-1EU-2EU-3EU-4PI-1SA-1SEA-1SEA-2CH-1
3203AAACAAAAAAAAAAAAAAAAAAAAAAAA
3408TTCTCCTTCCCTTTTTCTTTTTTTTTTT
3847AAAAAGAAAAAAAAAAAAAAAAAAAAAA
31010AAAGAAAAAAAAAAAAAAAAAAAAAAAA
645AAATAAAAAAAAAAAAAAAAAAAAAAAA
6120CGCCCCCCCCCCCCCCCCCCCCCCCCCC
6134AAAAAGAAAAAAAAAAAAAAAAAAAAAA
9131CCCCCCCCCCCCCCCTCCCCCCCCCCCC
1256GGGGGGGAGGGAGAGAGAGGGAGGGGGG
13101CCCCCTCCCTCCCCCCCCCCCCCCCCCC
14189AAAAATAAATATAAAAATAAAAAAAAAA
1742CCCCCACCCCCCCCCCCCCCCCCCCCCC
18384AGAAAAAGAAAAAGAGAAAGAGAAAGAA
18731GGGGGGGGGAGGGGGGGGGGGGGGGGGG
18998CCTCTCCCCCCCCCCCCCCCCCCCCCCC
181018CCCTCTCCCCCCCCCCCCCCCCCCCCCC
181120CCCCCCCCCCCCCTCCCCCCCCCCCCCC
181141CCCCCCCCCGCCCCCCCCCCCCCCCCCC
181303GGGAGGGGGGGGGGGGGGGGGGGGGGGG
181406AAAAAAAAAGAAAAAAAAAAAAAAAAAA
181514CCCTCTCCCCCCCCCCCCCCCCCCCCCC
181756TTTTCTTTTTTTTTTTTTTTTTTTTTTT
181896AAAGAAAGAAAAAAAGAAAGAAAAAGAA
183486TTTTTTTTTTTTTCTTTTTTTTTTTTTT
183501GGGGGAGGGAGAGGGGGAGGGGGGGGGG
183540GGGGGGGGGGGGGGGGGGGAGGAAGGAA
183609CTCCCCCTCCCCCTCTCCCTCTCCCTCC
183619AGAAAAAGAAAAAGAGAAAGAGAAAGAA
183722TTCTCTTTTTTTTTTTTTTTTTTTTTTT
183852AGAGAAAAAAAAAAAAAAAAAAAAAAAA
183874CACCCCCACCCCCACACCCACACCCACC
184003CTCCCCCCCCCCCCCCCCCCCCCCCCCC
24137AAAGAGAAAAAAAAAAAAAAAAAAAAAA

Shown here are the genotypes of the 14 humans at all polymorphic sites found in ASPM. For heterozygotes, the derived allele is shown after the ancestral allele. AP, African Pygmy; AA, African American; EU, European; PI, Pacific Islander; SA, South American; SEA, Southeast Asian; CH, Chinese.