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Mutation:
ATM S49C
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome, Breast cancer, susceptibility to
Minor Allele Frequency: (ESP6500)
[0.9931]
Minor Allele Frequency: (1000 Genomes)
[0.41932899999999995]
PTM Site: 53K
Affected site:
Position: 53
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 49C | HSD[S/C]SKQGKYLNWDAV | 4 |
distal
|
| 49F | HSD[S/F]SKQGKYLNWDAV | 4 |
distal
|
| 50Q | HSDS[K/Q]KQGKYLNWDAV | 3 |
distal
|
| 50R | HSDS[K/R]KQGKYLNWDAV | 3 |
distal
|
| 52R | HSDSKQ[G/R]GKYLNWDAV | 1 |
proximal
|
| 53Q | HSDSKQG[K/Q]KYLNWDAV | 0 |
direct
|
| 55W | HSDSKQGKY[L/W]LNWDAV | 2 |
proximal
|
| 55F | HSDSKQGKY[L/F]LNWDAV | 2 |
proximal
|
| 56K | HSDSKQGKYL[N/K]NWDAV | 3 |
distal
|
| 57R | HSDSKQGKYLN[W/R]WDAV | 4 |
distal
|
| 57C | HSDSKQGKYLN[W/C]WDAV | 4 |
distal
|
| 58H | HSDSKQGKYLNW[D/H]DAV | 5 |
distal
|
| 58Y | HSDSKQGKYLNW[D/Y]DAV | 5 |
distal
|
| 58G | HSDSKQGKYLNW[D/G]DAV | 5 |
distal
|
| 58V | HSDSKQGKYLNW[D/V]DAV | 5 |
distal
|
| 59S | HSDSKQGKYLNWD[A/S]AV | 6 |
distal
|
| 59V | HSDSKQGKYLNWD[A/V]AV | 6 |
distal
|
External references
dbSNP:
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