Table 2

Missense mutations in NOTCH1. Samples in bold were used for the initial (discovery set) screen. Underlined samples were from the Human Genome Sequencing Center, and the remaining samples were from Johns Hopkins University. OC, oral cavity; OP, oropharynx; HP, hypopharynx; N, no; Y, yes; WT, wild type; unk, unknown; na, not applicable; +, positive.

SampleSiteTobaccoTP53 statusHPV statusAmino acid (protein)
HN14PTOCNMutantnap.P391S
478OCNWTnap.G484V
HN 102 PTOCNWTnap.E450K
HN 105 PTOCYWTnap.G812W
HN 115 PTOCYMutantnap.G1340A
HN 117 PTOCNWTnap.G310R
HN 117 PTOCNWTnap.C456R
HN 142 PTOPYWT+p.R353H
HN 142 PTOPYWT+p.M2011R
HN 148 PTOPYMutantunkp.G1638V
HN 148 PTOPYMutantunkp.P2272S
HN 208 PTOCYMutantnap.R365C
HN 208 PTOCYMutantnap.R1280C
HN 227 PTHPYMutantnap.R365C
HN 251 PTOPNWT+p.F1292L
HN 255 PTOPYWTunkp.V2039L
HN 255 PTOPYWTunkp.V2039E