S5 Table. Summary of Notch1 PEST Domain Sequence Mutations Mutation Class Predicted Protein Change Location a Alteration +6951 +7002-7027 +7053 +7080-7081 +7082 Frameshift Frameshift Frameshift Frameshift Frameshift +7082 +7273-7280 +7454-7470 +7455-7462 +7469-7470 +7466-7566 del 'G' del 26 bp del 11 bp del 'AC' GGCTGGCA>TTGCTG G' del CGG ins GC del 'AGTCTGC' del 17 bp del 'CCTCACCC' del 2 bp del 100 bp +6913 +7144 +7171 +7243 +7429 +7435 C>T C>T C>T C>T C>T C>T Nonsense: Q2305* Nonsense: Q2382* Nonsense: Q2391* Nonsense: Q2415* Nonsense: Q2477* Nonsense: Q2479* +6847 +6926 +6984 +7020 +7052 +7052 +7056 +7080 +7081 +7081 +7081 +7081 +7081 +7081 +7082 +7082 +7082 +7082 +7082 +7082 +7082 +7082 +7082 +7082 +7083 +7084 +7084 +7087 +7096 +7183 +7185 +7193 +7193 +7194 +7194 +7195 +7196 +7211 +7216 +7228 +7259 +7259 +7260 +7260 +7274 +7294 +7343 +7377 +7406 +7407 +7423 +7446 +7460 +7463 +7464 G5>G6 ins 'T' ins 'A' ins 'T' C4>C5 ‘C’>’GGTGT’ ins 'AACC' ins 'AGAC' ‘C'>'GA' ins 'C' ins 'TTTTT' ins 'CCCC' ‘G'>'CC" ‘G'>'CCCCCCTC' ‘G'>'CC' ins 'GAAA' ‘G'>'AA' ‘G'>'CC' ‘G'>'CCCCC' ins 'CC' ins 'CCCC' ‘G'>'CCCTCCGC' ‘G'>'TT' ins 'CGCC' ins ‘CCCT’ ins 'G' ins 'GGGG' dup 29 bp dup 43 bp ins 'AGCGA' ins 'T' ins 8 bp ‘C'>'TT" ins 'CGCC' ins 'CCGC' ins 'GGGG' ins 'AAAG' ins 'CC' ins ‘GAG’ ins 'GGGA' C2>C4 ins ‘C’ ins 'CCCC' ins 'CCTC' ‘GTC'>'AGGGGTT' ins 'T' ‘T'>'GC' ins 'C' C4>C5 ins ‘A’ ins 'C' ins 'CACC' C5>C6 C4>C5 ins 'C' Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift № Tumours (if >1) Deletion Frameshift Frameshift Frameshift Frameshift Frameshift Frameshift 2 Point-Mutation Insertion a 4 2 2 2 Location relative to ‘A’ of translation start ‘ATG’ codon. All PEST domain mutations are predicted to cause truncation by a direct nonsense mutation or a frameshift mutation with downstream premature stop codon.
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