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Mutation:
ATM V60L
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: 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
|
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
|
External references
dbSNP:
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