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Mutation:
ATM T72I
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 66K
Affected site:
Position: 66
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 66E | AVFRFLQ[K/E]KYIQKETE | 0 |
direct
|
| 66N | AVFRFLQ[K/N]KYIQKETE | 0 |
direct
|
| 65E | AVFRFL[Q/E]QKYIQKETE | 1 |
proximal
|
| 65P | AVFRFL[Q/P]QKYIQKETE | 1 |
proximal
|
| 65R | AVFRFL[Q/R]QKYIQKETE | 1 |
proximal
|
PTM Site: 70K
Affected site:
Position: 70
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 70N | FLQKYIQ[K/N]KETECLRI | 0 |
direct
|
| 69K | FLQKYI[Q/K]QKETECLRI | 1 |
proximal
|
| 69P | FLQKYI[Q/P]QKETECLRI | 1 |
proximal
|
| 68V | FLQKY[I/V]IQKETECLRI | 2 |
proximal
|
| 68T | FLQKY[I/T]IQKETECLRI | 2 |
proximal
|
PTM Site: 72T
Affected site:
Position: 72
Residue: T
Type: phosphorylation
Impact:
directOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 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
|
| 70N | QKYIQ[K/N]KETECLRIAK | 2 |
proximal
|
PTM Site: 79K
Affected site:
Position: 79
Residue: K
Type: ubiquitination
Impact:
distalOther 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
|
External references
dbSNP:
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