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Mutation:
ATM A59V
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: 53K
Affected site:
Position: 53
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 53Q | HSDSKQG[K/Q]KYLNWDAV | 0 |
direct
|
| 52R | HSDSKQ[G/R]GKYLNWDAV | 1 |
proximal
|
| 55W | HSDSKQGKY[L/W]LNWDAV | 2 |
proximal
|
| 55F | HSDSKQGKY[L/F]LNWDAV | 2 |
proximal
|
| 50Q | HSDS[K/Q]KQGKYLNWDAV | 3 |
distal
|
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
|
External references
dbSNP:
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