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Mutation:
AMPD2 Q82R
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Intellectual disability
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 79Y
Affected site:
Position: 79
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 79C | SDSDLQL[Y/C]YKEQGEGQ | 0 |
direct
|
| 82R | SDSDLQLYKE[Q/R]QGEGQ | 3 |
distal
|
| 83C | SDSDLQLYKEQ[G/C]GEGQ | 4 |
distal
|
| 84D | SDSDLQLYKEQG[E/D]EGQ | 5 |
distal
|
PTM Site: 80K
Affected site:
Position: 80
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 79C | DSDLQL[Y/C]YKEQGEGQG | 1 |
proximal
|
| 82R | DSDLQLYKE[Q/R]QGEGQG | 2 |
proximal
|
| 83C | DSDLQLYKEQ[G/C]GEGQG | 3 |
distal
|
| 84D | DSDLQLYKEQG[E/D]EGQG | 4 |
distal
|
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