Table 2.

NOTCH1 mutations in T-ALL patients

DOMCase no.ClassesTypeAmino acids involvedStatus
HD-N1PM4724 T>CL1575PR
2DEL4735_4737 del GTGV1579 delR
3-5PM4757 T>CL1586PR
6DEL/INS4771_4788 delins CTTCTGGGGGGGF1591_E1596 delins LLGGN
7PM4778 T>CF1593SR
8PM4781 T>CL1594PR
9PM4796 G>CR1599PR
10INS4795_4796 ins AAAR1599 delins QSN
11PM4802 T>CL1601PR
12INS4820_4821 ins GGACCCF1607 delins LDPN
13INS4820_4821 ins GGGGACF1607 delins LGTN
14INS4820_4821 ins GAACCCCCTATCF1607 delins LNPLSN
15DEL/INS4821 delins ACCCCCACACCCTF1607 delins LPPHPN
16DEL4829_4903 delD1610_R1634 delN
HD-C17INS5029_5030 ins GAATCGV1677 delins GIVN
18-19PM5036 T>CL1679PR
20PM5036 T>AL1679QN
21PM5042 T>AI1681NR
22PM5104 G>CA1702PR
23INS+DUP[5222_5223 ins AATGAAGCT+5178_5222 dup][1741_1742 ins MKL+1727_1741 dup]N
ANK24PM5699 A>TN1900IN
TAD20INS6785_6786 ins GG2262XfsN
25PM6814 C>TP2272SN
17INS6987_6988 ins GS2330XfsN
PEST26PM7219 C>TQ2407XN
27PM7264 G>AV2422MN
3INS7266_7267 ins TGS2423XN
28PM7271 C>AS2424XN
29DEL/INS7478_7505 delins TCTCCTGAAGAGGS2493XfsN
  • Abbreviations: DOM, domain of mutations; PM, point mutation; DEL, deletion; INS, insertion; DUP, duplication; R, previously reported; N, previously undescribed.