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Mutation:
NDUFS8 A100V
Summary
Clinical Information
Cancer types: (TCGA MC3)
THCA
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: 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
|
External references
dbSNP:
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