Table 1.

NOTCH1 mutations in individual tumors and corresponding NICD1 IHC staining patterns

Tumor sample IDMutation typeNucleotide (cDNA)Amino acid (protein)Domain of Notch1 proteinExon #NICD1 IHC pattern
HN12PTNonsensec.5529G>Ap.W1843XRAM30Nonperipheral
HN14PTMissensec.1171C>Tp.P391SEGF-like domain (10)7Peripheral
HN102PTMissensec.1348G>Ap.E450KEGF-like domain (11)8Nonperipheral
HN105PTMissensec.2434G>Tp.G812WEGF-like domain (21)15Nonperipheral
Indelc.2436_2455delGGGT ACAAGTGCAACTGCCfsEGF-like domain (21)15
HN107PTNonsensec.1205C>Ap.S402XEGF-like domain (10)7Negative
HN115PTIndelc.1932_1931delGTfsEGF-like domain (17)12Peripheral
Missensec.4019G>Cp.G1340AEGF-like domain (34)25
HN117PTMissensec.928G>Ap.G310REGF-like domain (8)6Negative
Missensec.1366T>Cp.C456REGF-like domain (12)8
HN130PTNonsensec.2845G>Tp.E949XEGF-like domain (25)18Negative
HN139PTNonsensec.1662C>Ap.C554XEGF-like domain (14)10Negative
HN142PTMissensec.1058G>p.R353HEGF-like domain (9)6Nonperipheral
Missensec.6032T>Gp.M2011RAnkyrin repeats Ank_432
HN183PTNonsensec.5872C>Tp.Q1958XAnkyrin repeats Ank_331Negative
HN194PTIndelc.4665delCfsLNR-326Negative
HN208PTMissensec.1093C>p.R365CEGF-like domain (9)6Nonperipheral
Missensec.3838C>Tp.R1280CEGF-like domain (33)23
HN227PTMissensec.1093C>p.R365CEGF-like domain (9)6Nonperipheral
HN245PTIndelc.1130delTfsEGF-like domain (10)7Negative
HN251PTMissensec.3876C>Gp.F1292LEGF-like domain (33)23Negative
HN255PTMissensec.6115G>Tp.V2039LAnkyrin repeats Ank_533Peripheral
Missensec.6116T>Ap.V2039EAnkyrin repeats Ank_533

Abbreviations: fs, frameshift; Indel, insertion or deletion; LNR, Lin12/Notch repeat; RAM, RBP-jkappa-associated module.