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Mutation:
ATM N81D
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: 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:
proximalOther 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
|
PTM Site: 85S
Affected site:
Position: 85
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 79R | A[K/R]KPNVSASTQASRQK | 6 |
distal
|
| 80S | AK[P/S]PNVSASTQASRQK | 5 |
distal
|
| 80L | AK[P/L]PNVSASTQASRQK | 5 |
distal
|
| 81D | AKP[N/D]NVSASTQASRQK | 4 |
distal
|
| 82I | AKPN[V/I]VSASTQASRQK | 3 |
distal
|
| 84S | AKPNVS[A/S]ASTQASRQK | 1 |
proximal
|
| 84V | AKPNVS[A/V]ASTQASRQK | 1 |
proximal
|
| 86A | AKPNVSAS[T/A]TQASRQK | 1 |
proximal
|
| 86I | AKPNVSAS[T/I]TQASRQK | 1 |
proximal
|
| 88S | AKPNVSASTQ[A/S]ASRQK | 3 |
distal
|
| 88D | AKPNVSASTQ[A/D]ASRQK | 3 |
distal
|
| 89F | AKPNVSASTQA[S/F]SRQK | 4 |
distal
|
| 90G | AKPNVSASTQAS[R/G]RQK | 5 |
distal
|
| 90S | AKPNVSASTQAS[R/S]RQK | 5 |
distal
|
PTM Site: 86T
Affected site:
Position: 86
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 80S | K[P/S]PNVSASTQASRQKK | 6 |
distal
|
| 80L | K[P/L]PNVSASTQASRQKK | 6 |
distal
|
| 81D | KP[N/D]NVSASTQASRQKK | 5 |
distal
|
| 82I | KPN[V/I]VSASTQASRQKK | 4 |
distal
|
| 84S | KPNVS[A/S]ASTQASRQKK | 2 |
proximal
|
| 84V | KPNVS[A/V]ASTQASRQKK | 2 |
proximal
|
| 86A | KPNVSAS[T/A]TQASRQKK | 0 |
direct
|
| 86I | KPNVSAS[T/I]TQASRQKK | 0 |
direct
|
| 88S | KPNVSASTQ[A/S]ASRQKK | 2 |
proximal
|
| 88D | KPNVSASTQ[A/D]ASRQKK | 2 |
proximal
|
| 89F | KPNVSASTQA[S/F]SRQKK | 3 |
network-rewiring
|
| 90G | KPNVSASTQAS[R/G]RQKK | 4 |
distal
|
| 90S | KPNVSASTQAS[R/S]RQKK | 4 |
distal
|
| 92E | KPNVSASTQASRQ[K/E]KK | 6 |
distal
|
| 92T | KPNVSASTQASRQ[K/T]KK | 6 |
distal
|
External references
dbSNP:
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