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Mutation:
NDUFA8 M44V
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0384]
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 38K
Affected site:
Position: 38
Residue: K
Type: ubiquitination, acetylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 44V | HYGAQCDKPNKEF[M/V]ML | 6 |
distal
|
| 34V | HYG[A/V]AQCDKPNKEFML | 4 |
distal
|
| 43L | HYGAQCDKPNKE[F/L]FML | 5 |
distal
|
| 32C | H[Y/C]YGAQCDKPNKEFML | 6 |
distal
|
PTM Site: 41K
Affected site:
Position: 41
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 44V | AQCDKPNKEF[M/V]MLCRW | 3 |
distal
|
| 43L | AQCDKPNKE[F/L]FMLCRW | 2 |
proximal
|
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
|
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