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Mutation:
ATM P80L
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
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 79R | TECLRIA[K/R]KPNVSAST | 0 |
direct
|
| 78T | TECLRI[A/T]AKPNVSAST | 1 |
proximal
|
| 78G | TECLRI[A/G]AKPNVSAST | 1 |
proximal
|
| 80S | TECLRIAK[P/S]PNVSAST | 1 |
proximal
|
| 80L | TECLRIAK[P/L]PNVSAST | 1 |
proximal
|
PTM Site: 83S
Affected site:
Position: 83
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 82I | RIAKPN[V/I]VSASTQASR | 1 |
proximal
|
| 84S | RIAKPNVS[A/S]ASTQASR | 1 |
proximal
|
| 84V | RIAKPNVS[A/V]ASTQASR | 1 |
proximal
|
| 81D | RIAKP[N/D]NVSASTQASR | 2 |
proximal
|
| 80S | RIAK[P/S]PNVSASTQASR | 3 |
distal
|
PTM Site: 85S
Affected site:
Position: 85
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 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
|
| 82I | AKPN[V/I]VSASTQASRQK | 3 |
distal
|
PTM Site: 86T
Affected site:
Position: 86
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 86A | KPNVSAS[T/A]TQASRQKK | 0 |
direct
|
| 86I | KPNVSAS[T/I]TQASRQKK | 0 |
direct
|
| 84S | KPNVS[A/S]ASTQASRQKK | 2 |
proximal
|
| 84V | KPNVS[A/V]ASTQASRQKK | 2 |
proximal
|
| 88S | KPNVSASTQ[A/S]ASRQKK | 2 |
proximal
|
External references
dbSNP:
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