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Mutation:
ATM Q69P
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
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 60L | A[V/L]VFRFLQKYIQKETE | 6 |
distal
|
| 60A | A[V/A]VFRFLQKYIQKETE | 6 |
distal
|
| 61I | AV[F/I]FRFLQKYIQKETE | 5 |
distal
|
| 61S | AV[F/S]FRFLQKYIQKETE | 5 |
distal
|
| 62G | AVF[R/G]RFLQKYIQKETE | 4 |
distal
|
| 65E | AVFRFL[Q/E]QKYIQKETE | 1 |
proximal
|
| 65P | AVFRFL[Q/P]QKYIQKETE | 1 |
proximal
|
| 65R | AVFRFL[Q/R]QKYIQKETE | 1 |
proximal
|
| 65H | AVFRFL[Q/H]QKYIQKETE | 1 |
proximal
|
| 66E | AVFRFLQ[K/E]KYIQKETE | 0 |
direct
|
| 66N | AVFRFLQ[K/N]KYIQKETE | 0 |
direct
|
| 67C | AVFRFLQK[Y/C]YIQKETE | 1 |
proximal
|
| 68V | AVFRFLQKY[I/V]IQKETE | 2 |
proximal
|
| 68T | AVFRFLQKY[I/T]IQKETE | 2 |
proximal
|
| 68M | AVFRFLQKY[I/M]IQKETE | 2 |
proximal
|
| 69K | AVFRFLQKYI[Q/K]QKETE | 3 |
distal
|
| 69P | AVFRFLQKYI[Q/P]QKETE | 3 |
distal
|
| 70N | AVFRFLQKYIQ[K/N]KETE | 4 |
distal
|
| 72A | AVFRFLQKYIQKE[T/A]TE | 6 |
distal
|
| 72R | AVFRFLQKYIQKE[T/R]TE | 6 |
distal
|
| 72I | AVFRFLQKYIQKE[T/I]TE | 6 |
distal
|
PTM Site: 70K
Affected site:
Position: 70
Residue: K
Type: ubiquitination
Impact:
proximalOther 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
|
External references
dbSNP:
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