Summary of Notch1 single point mutations found in T-ALL
Mutation . | Reference . | Location . | % buried . | Ligand-independent reporter activity . | Urea dissociation propensity . | Putative classification . |
---|---|---|---|---|---|---|
L1575P | 18 | β1 | 99 | +++ | Core | |
L1575Q | 19 | |||||
V1577E | 19 | β1 | 100 | ++ | +++ | Core |
V1579G | 19 | β1 | 100 | Core | ||
L1586P | 18 | α1 | 100 | Core | ||
L1586R | 19 | |||||
R1587P | 19 | α1 | 50 | Partially exposed | ||
F1593S | 18 | α1 | 100 | +++ | +++ | Core |
F1593C | 19 | |||||
L1594P | 18 | α1 | 93 | ++ | ++ | Core |
L1597H | 18,27 | α1 | 100 | +++ | +++ | Core |
R1599P | 18 | α1 | 45 | +++ | +++ | Partially exposed |
L1601P | 18 | α1 | 99 | ++++ | Core | |
L1601Q | 19 | |||||
Q1615K | 19 | Loop β2, β3 | 74 | Partially exposed | ||
I1617T | 18,27 | β3 | 95 | + | ++ | Core |
I1617N | 18 | +++ | ||||
Y1620N | 19 | Furin loop | 66 | Partially exposed | ||
V1677D | 18 | β4 | 100 | + | ++++ | Core |
L1679P | 18 | β4 | 100 | + | ++++ | Core |
L1679Q | 24 | |||||
I1681N | 18 | β4 | 98 | ++ | +++ | Core |
C1686F | 19 | Cysteine-knuckle | 55 | Partially exposed | ||
A1697D | 22 | α3 | 97 | Core | ||
A1702P | 18 | α3 | 94 | + | + | Interface |
L1710P | 20 | α3 | 92 | Interface | ||
I1719T | 18,27 | Loop α3, β5 | 86 | + | ++ | Interface |
H1545P | 21 | LNR-C | 17 | ++ | + | Partially exposed |
Mutation . | Reference . | Location . | % buried . | Ligand-independent reporter activity . | Urea dissociation propensity . | Putative classification . |
---|---|---|---|---|---|---|
L1575P | 18 | β1 | 99 | +++ | Core | |
L1575Q | 19 | |||||
V1577E | 19 | β1 | 100 | ++ | +++ | Core |
V1579G | 19 | β1 | 100 | Core | ||
L1586P | 18 | α1 | 100 | Core | ||
L1586R | 19 | |||||
R1587P | 19 | α1 | 50 | Partially exposed | ||
F1593S | 18 | α1 | 100 | +++ | +++ | Core |
F1593C | 19 | |||||
L1594P | 18 | α1 | 93 | ++ | ++ | Core |
L1597H | 18,27 | α1 | 100 | +++ | +++ | Core |
R1599P | 18 | α1 | 45 | +++ | +++ | Partially exposed |
L1601P | 18 | α1 | 99 | ++++ | Core | |
L1601Q | 19 | |||||
Q1615K | 19 | Loop β2, β3 | 74 | Partially exposed | ||
I1617T | 18,27 | β3 | 95 | + | ++ | Core |
I1617N | 18 | +++ | ||||
Y1620N | 19 | Furin loop | 66 | Partially exposed | ||
V1677D | 18 | β4 | 100 | + | ++++ | Core |
L1679P | 18 | β4 | 100 | + | ++++ | Core |
L1679Q | 24 | |||||
I1681N | 18 | β4 | 98 | ++ | +++ | Core |
C1686F | 19 | Cysteine-knuckle | 55 | Partially exposed | ||
A1697D | 22 | α3 | 97 | Core | ||
A1702P | 18 | α3 | 94 | + | + | Interface |
L1710P | 20 | α3 | 92 | Interface | ||
I1719T | 18,27 | Loop α3, β5 | 86 | + | ++ | Interface |
H1545P | 21 | LNR-C | 17 | ++ | + | Partially exposed |
+ represents relative strength of measured effect as reported in listed references.