S5 Table. Summary of Notch1 PEST Domain Sequence

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.