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Mutation:
NDUFA8 L25F
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: 19K
Affected site:
Position: 19
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 25F | ELKVDEVKISSAV[L/F]LK | 6 |
distal
|
| 23V | ELKVDEVKISS[A/V]AVLK | 4 |
distal
|
PTM Site: 26K
Affected site:
Position: 26
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 25F | KISSAV[L/F]LKAAAHHYG | 1 |
proximal
|
| 32C | KISSAVLKAAAHH[Y/C]YG | 6 |
distal
|
| 23V | KISS[A/V]AVLKAAAHHYG | 3 |
distal
|
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