Table 1. All reported autosomal recessive primary microcephaly (MCPH) mutations in ASPM.
| Mutation | Predicted protein effect | Reported in more than one family? | Ethnic group | Reference |
| c.74delG | p.Arg25fs | No | Caucasian | This paper |
| c.297+1460_3391-242del21844 | Loss of microtubular binding domain | No | Caucasian | This paper |
| c.349C>T | p.Arg117X | Yes | Caucasian, Indian | 20, 37 |
| c.440delA | p.Lys147fs | No | Caucasian | This paper |
| c.577C>T | p.Gln193X | No | Caucasian | This paper |
| c.719_720delCT | p.Ser240fs | Yes | Pakistani | 3 |
| c.1152_1153delAG | p.Ser384fs | No | Caucasian | This paper |
| c.1179delT | p.Pro393fs | No | Caucasian | This paper |
| c.1258_1264delTCTCAAG | p.Ser420fs | Yes | Pakistani | 3* |
| c.1260_1266delTCAAGTC | p.Ser420fs | Yes | Pakistani | 21* |
| c.1366G>T | p.Glu456X | No | Turkish | This paper |
| c.1406_1413delATCCTAAA | p.Asn469fs | No | Caucasian | This paper |
| c.1590delA | p.Lys530fs | No | Caucasian | This paper |
| c.1727_1728delAG | p.Lys576fs | No | Yemeni | 37 |
| c.1959_1961delCAAA | p.Asn653fs | Yes | Saudi Arabian, Caucasian | This paper, 37 |
| c.1990C>T | p.Gln664X | No | Pakistani | 37 |
| c.2761-25A>G | Creates “AG” motif between branch site and splice acceptor site, exon 10 skipped, exon 11 frameshift with 30 novel aa then stop | No | Caucasian | This paper |
| c.2936+5G>T | Removes splice donor site, additional 2 aa then stop | No | Pakistani | 37 |
| c.2967G>A | p.Trp989X | No | Caucasian | This paper |
| c.3055C>T | p.Arg1019X | Yes | Caucasian | This paper |
| c.3082G>A | Removes splice donor site, additional 3 aa then stop | No | Pakistani | 37 |
| c.3188T>G | p.Leu1063X | No | Pakistani | This paper |
| c.3527C>G | p.Ser1176X | No | Jordanian | 37 |
| c.3663delG | p.Arg1221fs | Yes | Pakistani | 37 |
| c.3710C>G | p.Ser1237X | No | Caucasian | This paper |
| c.3741+1G>A | Removes splice donor site, additional 9 novel aa then stop | No | Caucasian | This paper |
| c.3796G>T | p.Glu1266X | No | African | This paper |
| c.3811C>T | p.Arg1271X | Yes | Dutch†, Asian | This paper, 37 |
| c.3978G>A | p.Trp1326X | Yes | Indian, Pakistani | 20, 21 |
| c.4581delA | p.Gly1527fs | No | Pakistani | 37 |
| c.4795C>T | p.Arg1599X | No | Pakistani | 37 |
| c.4855_4856delTA | p.Tyr1619fs | No | Pakistani | This paper |
| c.5136C>A | p.Tyr1712X | No | Pakistani | 37 |
| c.5149delA | p.Ile1717fs | No | Pakistani | 34 |
| c.6189T>G | p.Tyr2063X | No | Yemeni | 35 |
| c.6335_6336delAT | p.His2112fs | No | Pakistani | This paper |
| c.7489_7493delTATAT | p.Tyr2497fs | No | Caucasian | This paper |
| c.7761T>G | p.Tyr2587X | Yes | Pakistani | This paper, 3 |
| c.7782_7783delGA | p.Gln2594fs | Yes | Caucasian, Pakistani | This paper |
| c.7859_7860delAG | p.Gln2620fs | No | Arab | This paper |
| c.8130_8131delAA | p.Thr2710fs | No | Caucasian | This paper |
| c.8378delT | p.Met2793fs | Yes | Pakistani | This paper |
| c.8508_8509delGA | p.Gln2836fs | Yes | Pakistani | This paper, 34, 37 |
| c.8844delC | p.Ala2948fs | No | Caucasian | This paper |
| c.9118_9119insCATT | p.Tyr3040fs | No | Pakistani | 21 |
| c.9159delA | p.Lys3053fs | Yes | Pakistani | 3, 37 |
| c.9178C>T | p.Gln3060X | Yes | Indian, Caucasian | This paper, 20 |
| c.9190C>T | p.Arg3064X | Yes | Pakistani, Dutch | This paper, 37 |
| c.9238A>T | p.Leu3080X | Yes | Pakistani | This paper, 21 |
| c.9557C>G | p.Ser3186X | Yes | Pakistani | 21, 37 |
| c.9681delA | p.Thr3227fs | No | Pakistani | This paper |
| c.9730C>T | p.Arg3244X | No | Pakistani | 34 |
| c.9745_9746delCT | p.Leu3249fs | No | Pakistani | This paper |
| c.9754delA | p.Arg3252fs | No | Yemeni | 37 |
| c.9789T>A | p.Tyr3263X | No | Pakistani | This paper |
| c.9984+1G>T | Removes splice donor site, additional 29 novel aa then stop | No | Pakistani | 37 |
| c.10059C>A | p.Tyr3353X | No | Pakistani | 34 |
| Translocation | Loss of IQ and armadillo domains | No | European | 33 |
aa, amino acids.
*These are the same 7 base pair deletion mutation. †c.3811C>T has been found in a total of 3 out of 5 Dutch families with MCPH.
Bold face indicates MCPH associated with epileptic fits.
The position of each mutation is given as the number of bases from the start codon of the reference sequence NM_018136.3.