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Mutation:
NDUFA8 R55W
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)
[0.0199681]
PTM Site: 51K
Affected site:
Position: 51
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 55W | MLCRWEEKDPR[R/W]RCLE | 4 |
distal
|
| 53S | MLCRWEEKD[P/S]PRRCLE | 2 |
proximal
|
| 55Q | MLCRWEEKDPR[R/Q]RCLE | 4 |
distal
|
| 52H | MLCRWEEK[D/H]DPRRCLE | 1 |
proximal
|
| 50Q | MLCRWE[E/Q]EKDPRRCLE | 1 |
proximal
|
PTM Site: 61K
Affected site:
Position: 61
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 61R | RRCLEEG[K/R]KLVNKCAL | 0 |
direct
|
| 55W | R[R/W]RCLEEGKLVNKCAL | 6 |
distal
|
| 55Q | R[R/Q]RCLEEGKLVNKCAL | 6 |
distal
|
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