After several years of serving the research community, our ActiveDriverDB database will be retired on May 1st 2026. Please make sure to download any data you need and update your links or workflows before that date.
We want to sincerely thank all our users for their support, feedback, and collaboration over the years — your contributions have been invaluable to this project. A special thank you to Dr. Michal Krassowski for leading the development of our open-source software and database.
For any questions or assistance, please contact Jüri Reimand (juri.reimand@utoronto.ca).
You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
ETFDH Y492H
Summary
Isoform:
Position:
492
Ref:
Y
Mutation:
H
PTM impact:
proximal
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 490S
Affected site:
Position: 490
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 496K | IPVNRNLSIYDGP[E/K]EQ | 6 |
distal
|
| 492H | IPVNRNLSI[Y/H]YDGPEQ | 2 |
proximal
|
| 490L | IPVNRNL[S/L]SIYDGPEQ | 0 |
direct
|
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