You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
NDUFS8 P90L
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 88K
Affected site:
Position: 88
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 85L | TINY[P/L]PFEKGPLSPRF | 3 |
distal
|
| 90L | TINYPFEKG[P/L]PLSPRF | 2 |
proximal
|
| 82M | T[I/M]INYPFEKGPLSPRF | 6 |
distal
|
| 87V | TINYPF[E/V]EKGPLSPRF | 1 |
proximal
|
PTM Site: 96R
Affected site:
Position: 96
Residue: R
Type: methylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 90L | G[P/L]PLSPRFRGEHALRR | 6 |
distal
|
| 100V | GPLSPRFRGEH[A/V]ALRR | 4 |
distal
|
| 102H | GPLSPRFRGEHAL[R/H]RR | 6 |
distal
|
If you have any questions or feedback about this mutation:
Contact us