You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
ATM I77V
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 70K
Affected site:
Position: 70
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 65E | FL[Q/E]QKYIQKETECLRI | 5 |
distal
|
| 65P | FL[Q/P]QKYIQKETECLRI | 5 |
distal
|
| 65R | FL[Q/R]QKYIQKETECLRI | 5 |
distal
|
| 65H | FL[Q/H]QKYIQKETECLRI | 5 |
distal
|
| 66E | FLQ[K/E]KYIQKETECLRI | 4 |
distal
|
| 66N | FLQ[K/N]KYIQKETECLRI | 4 |
distal
|
| 67C | FLQK[Y/C]YIQKETECLRI | 3 |
distal
|
| 68V | FLQKY[I/V]IQKETECLRI | 2 |
proximal
|
| 68T | FLQKY[I/T]IQKETECLRI | 2 |
proximal
|
| 68M | FLQKY[I/M]IQKETECLRI | 2 |
proximal
|
| 69K | FLQKYI[Q/K]QKETECLRI | 1 |
proximal
|
| 69P | FLQKYI[Q/P]QKETECLRI | 1 |
proximal
|
| 70N | FLQKYIQ[K/N]KETECLRI | 0 |
direct
|
| 72A | FLQKYIQKE[T/A]TECLRI | 2 |
proximal
|
| 72R | FLQKYIQKE[T/R]TECLRI | 2 |
proximal
|
| 72I | FLQKYIQKE[T/I]TECLRI | 2 |
proximal
|
| 73K | FLQKYIQKET[E/K]ECLRI | 3 |
distal
|
| 74S | FLQKYIQKETE[C/S]CLRI | 4 |
distal
|
| 74Y | FLQKYIQKETE[C/Y]CLRI | 4 |
distal
|
| 76K | FLQKYIQKETECL[R/K]RI | 6 |
distal
|
| 76S | FLQKYIQKETECL[R/S]RI | 6 |
distal
|
PTM Site: 72T
Affected site:
Position: 72
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 66E | Q[K/E]KYIQKETECLRIAK | 6 |
distal
|
| 66N | Q[K/N]KYIQKETECLRIAK | 6 |
distal
|
| 67C | QK[Y/C]YIQKETECLRIAK | 5 |
distal
|
| 68V | QKY[I/V]IQKETECLRIAK | 4 |
distal
|
| 68T | QKY[I/T]IQKETECLRIAK | 4 |
distal
|
| 68M | QKY[I/M]IQKETECLRIAK | 4 |
distal
|
| 69K | QKYI[Q/K]QKETECLRIAK | 3 |
distal
|
| 69P | QKYI[Q/P]QKETECLRIAK | 3 |
distal
|
| 70N | QKYIQ[K/N]KETECLRIAK | 2 |
proximal
|
| 72A | QKYIQKE[T/A]TECLRIAK | 0 |
direct
|
| 72R | QKYIQKE[T/R]TECLRIAK | 0 |
direct
|
| 72I | QKYIQKE[T/I]TECLRIAK | 0 |
direct
|
| 73K | QKYIQKET[E/K]ECLRIAK | 1 |
proximal
|
| 74S | QKYIQKETE[C/S]CLRIAK | 2 |
proximal
|
| 74Y | QKYIQKETE[C/Y]CLRIAK | 2 |
proximal
|
| 76K | QKYIQKETECL[R/K]RIAK | 4 |
distal
|
| 76S | QKYIQKETECL[R/S]RIAK | 4 |
distal
|
| 77V | QKYIQKETECLR[I/V]IAK | 5 |
distal
|
| 78T | QKYIQKETECLRI[A/T]AK | 6 |
distal
|
| 78G | QKYIQKETECLRI[A/G]AK | 6 |
distal
|
PTM Site: 79K
Affected site:
Position: 79
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 73K | T[E/K]ECLRIAKPNVSAST | 6 |
distal
|
| 74S | TE[C/S]CLRIAKPNVSAST | 5 |
distal
|
| 74Y | TE[C/Y]CLRIAKPNVSAST | 5 |
distal
|
| 76K | TECL[R/K]RIAKPNVSAST | 3 |
distal
|
| 76S | TECL[R/S]RIAKPNVSAST | 3 |
distal
|
| 77V | TECLR[I/V]IAKPNVSAST | 2 |
proximal
|
| 78T | TECLRI[A/T]AKPNVSAST | 1 |
proximal
|
| 78G | TECLRI[A/G]AKPNVSAST | 1 |
proximal
|
| 79R | TECLRIA[K/R]KPNVSAST | 0 |
direct
|
| 80S | TECLRIAK[P/S]PNVSAST | 1 |
proximal
|
| 80L | TECLRIAK[P/L]PNVSAST | 1 |
proximal
|
| 81D | TECLRIAKP[N/D]NVSAST | 2 |
proximal
|
| 82I | TECLRIAKPN[V/I]VSAST | 3 |
distal
|
| 84S | TECLRIAKPNVS[A/S]AST | 5 |
distal
|
| 84V | TECLRIAKPNVS[A/V]AST | 5 |
distal
|
PTM Site: 83S
Affected site:
Position: 83
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 77V | R[I/V]IAKPNVSASTQASR | 6 |
distal
|
| 78T | RI[A/T]AKPNVSASTQASR | 5 |
distal
|
| 78G | RI[A/G]AKPNVSASTQASR | 5 |
distal
|
| 79R | RIA[K/R]KPNVSASTQASR | 4 |
distal
|
| 80S | RIAK[P/S]PNVSASTQASR | 3 |
distal
|
| 80L | RIAK[P/L]PNVSASTQASR | 3 |
distal
|
| 81D | RIAKP[N/D]NVSASTQASR | 2 |
proximal
|
| 82I | RIAKPN[V/I]VSASTQASR | 1 |
proximal
|
| 84S | RIAKPNVS[A/S]ASTQASR | 1 |
proximal
|
| 84V | RIAKPNVS[A/V]ASTQASR | 1 |
proximal
|
| 86A | RIAKPNVSAS[T/A]TQASR | 3 |
distal
|
| 86I | RIAKPNVSAS[T/I]TQASR | 3 |
distal
|
| 88S | RIAKPNVSASTQ[A/S]ASR | 5 |
distal
|
| 88D | RIAKPNVSASTQ[A/D]ASR | 5 |
distal
|
| 89F | RIAKPNVSASTQA[S/F]SR | 6 |
distal
|
External references
dbSNP:
If you have any questions or feedback about this mutation:
Contact us