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Mutation:
FH V293I
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Fumarase deficiency
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 292K
Affected site:
Position: 292
Residue: K
Type: acetylation, ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 298G | TRIGFAEKVAAKV[A/G]AA | 6 |
distal
|
| 298P | TRIGFAEKVAAKV[A/P]AA | 6 |
distal
|
| 295T | TRIGFAEKVA[A/T]AKVAA | 3 |
distal
|
| 294T | TRIGFAEKV[A/T]AAKVAA | 2 |
proximal
|
| 293I | TRIGFAEK[V/I]VAAKVAA | 1 |
proximal
|
| 292Q | TRIGFAE[K/Q]KVAAKVAA | 0 |
direct
|
| 298S | TRIGFAEKVAAKV[A/S]AA | 6 |
distal
|
| 297A | TRIGFAEKVAAK[V/A]VAA | 5 |
distal
|
External references
dbSNP:
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