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Mutation:
EXOSC2 R20C
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 15S
Affected site:
Position: 15
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 15R | PVARKPL[S/R]SERLGRDT | 0 |
direct
|
| 20C | PVARKPLSERLG[R/C]RDT | 5 |
distal
|
| 11G | PVA[R/G]RKPLSERLGRDT | 4 |
distal
|
PTM Site: 24K
Affected site:
Position: 24
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 30V | RLGRDTKKHLVVP[G/V]GD | 6 |
distal
|
| 20C | RLG[R/C]RDTKKHLVVPGD | 4 |
distal
|
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