Table 2.
ATM mutations of 24 families with AT
| Patients | DNA level | Protein level | Consequence | Status | Genotype |
|---|---|---|---|---|---|
| AT01 | c.8441delG | p.Glu2814LysfsTer43 | Truncation | Novel | Compound heterozygote |
| c.6095G>A | Exon 43 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | ||
| AT02 | c.3402+30_3402+32delATC | ? | ? | Novel | Compound heterozygote |
| AT02.1 | c.3402+30_3402+32delATC | ? | ? | Novel | Carrier |
| AT02.2 | Excluded c.3402+30_3402+32delATC | ||||
| AT06 | c.6145T>G | p.Tyr2049Asp | Missense | Novel | Compound heterozygote |
| c.434T>G, | p.Leu145Arg | Missense | Novel | ||
| AT07 | c.6754_6754delA | p.Thr2252ProfsTer5 | Truncation | Novel | Compound heterozygote |
| c.6095G>A | Exon 43 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | ||
| AT7.1 | c.6754_6754delA | p.Thr2252ProfsTer5 | Truncation | Novel | Compound heterozygote |
| c.6095G>A, | Exon 43 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | ||
| AT08 | c.7630-2A>C | Exon 54 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | Compound heterozygote |
| AT08.1 | c.7630-2A>C | Exon 54 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | Carrier |
| AT10 | c.6095G>A, | Exon 43 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | Compound heterozygote |
| AT12 | c. 7630-2A>C | Exon 54 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | Compound heterozygote |
| AT13 | Deletion of 62 and 63 exons | Truncation | Novel | Compound heterozygote | |
| c.5932G>T | p.Glu1978Ter | Truncation | Birrell et al. (2005); Li and Swift (2000); Mitui et al. (2005) | ||
| AT15 | c.1179_1180delGG | p.Trp393Ter | Truncation | Buzin et al. (2003) | Compound heterozygote |
| AT19 | c.6095G>A | Exon 43 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | Compound heterozygote |
| AT21 | c.7010_7011delGT | Mitui et al. (2005); Telatar et al. (1996) | Compound heterozygote | ||
| c.5932G>T | p.Glu1978Ter | Truncation | Birrell et al. (2005); Li and Swift (2000); Mitui et al. (2005) | ||
| AT23 | c.381_381delA | p.Thr127ThrfsTer2 | Truncation | Babaei et al. (2005); Castellvi-Bel et al. (1999); Mitui et al. (2005) | Compound heterozygote |
| c.3402+30_3402+32delATC | ? | ? | Novel | ||
| AT23.1 | Excluded c.381_381delA | Carrier | |||
| c.3402+30_3402+32delATC | ? | ? | Novel | ||
| AT23.2 | c.381_381delA | p. Thr127Thr fsTer2 | Truncation | Babaei et al. (2005); Castellvi-Bel et al. (1999) Mitui et al. (2005) | Carrier |
| Excluded c.3402+30_3402+32delATC | |||||
| AT24 | c.4007_4008insA | p.Phe1336PhefsTer3 | Truncation | Novel | Homozygote |
| c.4007_4008insA | p.Phe1336PhefsTer3 | Truncation | Novel | ||
| AT24.1 | c.4007_4008insA | p.Phe1336PhefsTer3 | Truncation | Novel | |
| AT26 | c.7606G>A | p.Gly2536Ter | Truncation | Novel | Compound heterozygote |
| AT27 | c.3402+30_3402+32delATC | ? | ? | Novel | Compound heterozygote |
| c.5932G>T | p.Glu1978Ter | Truncation | Birrell et al. (2005); Mitui et al. (2005) | ||
| AT27.1 | c.5932G>T | p.Glu1978Ter | Truncation | Birrell et al. (2005); Li and Swift (2000); Mitui et al. (2005) | Carrier |
| AT27.2 | c.3402+30_3402+32delATC | ? | ? | Novel | Carrier |
| AT28 | c.5932G>T | p.Glu1978Ter | Truncation | Birrell et al. (2005); Li and Swift (2000); Mitui et al. (2005) | Compound heterozygote |
| c.7630-2A>C | Exon 54 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | ||
| AT28.1 | c.5932G>T | p.Glu1978Ter | Truncation | Birrell et al. (2005); Li and Swift (2000); Mitui et al. (2005) | Carrier |
| Excluded c.7630-2A>C | |||||
| AT30 | c.6095G>A | Exon 43 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | Compound Heterozygote |
| AT31 | c.2250G>A | Aberrant splicing | Byrd et al. (1996); Mitui et al. (2003); Sandoval et al. (1999) | Compound heterozygote | |
| c.7630-2A>C | Exon 54 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | ||
| AT33 | c.7630-2A>C | Exon 54 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | Compound heterozygote |
| c.5932G>T | p.Glu1978Ter | Truncation | Birrell et al. (2005); Li and Swift (2000); Mitui et al. (2005) | ||
| AT33.1 | c.7630-2A>C | Exon 54 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | Compound heterozygote |
| c.5932G>T | p.Glu1978Ter | Truncation | Birrell et al. (2005); Li and Swift (2000); Mitui et al. (2005) | ||
| AT34 | Deletion of exons 19 and 20 | Truncation | Novel | Compound heterozygote | |
| Deletion of exon 63 | Truncation | Novel | |||
| AT35 | c.5932G>T | p.Glu1978Ter | Truncation | Birrell et al. (2005); Li and Swift (2000); Mitui et al. (2005) | Compound heterozygote |
| AT36 | c.3802_3802delG | p.Val1268Ter | Truncation | Mitui et al. (2003); Sandoval et al. (1999) | Compound heterozygote |
| AT37 | c.9021_9022insA | p.Arg3008ThrfsTer54 | Truncation | Mitui et al. (2005) | Homozygote |
| c.9021_9022insA | p.Arg3008ThrfsTer54 | Truncation | |||
| AT37.1 | c.9021_9022insA | p.Arg3008ThrfsTer54 | Truncation | Mitui et al. (2005) | Carrier |
| AT37.2 | c.9021_9022insA | p.Arg3008ThrfsTer54 | Truncation | Mitui et al. (2005) | Carrier |
| AT38 | c.7010_7011delGT | p.Gly2337SerfsTer35 | Truncation | Telatar et al. (1996) | Compound heterozygote |
| c.7630-2A>C | Exon 54 skipped | Aberrant splicing | Li and Swift (2000); Mitui et al. (2005); Sandoval et al. (1999); Telatar et al. (1998) | ||
| AT38.1 | Excluded c.7010_7011delGT |
On the basis of transcripts NM_000051 for ATM.