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:
COL6A2 E679K
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Bethlem myopathy 1
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 683S
Affected site:
Position: 683
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 679K | LDD[E/K]ERIDSLSSFKEA | 4 |
distal
|
| 680H | LDDE[R/H]RIDSLSSFKEA | 3 |
network-rewiring
|
| 685W | LDDERIDSL[S/W]SSFKEA | 2 |
proximal
|
| 682H | LDDERI[D/H]DSLSSFKEA | 1 |
proximal
|
| 682N | LDDERI[D/N]DSLSSFKEA | 1 |
proximal
|
| 689K | LDDERIDSLSSFK[E/K]EA | 6 |
distal
|
| 683F | LDDERID[S/F]SLSSFKEA | 0 |
direct
|
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