You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
PLEC H340Q
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Epidermolysis bullosa simplex with muscular dystrophy
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 334K
Affected site:
Position: 334
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 340Q | AVQAGQLKVPPGY[H/Q]HP | 6 |
distal
|
| 333F | AVQAGQ[L/F]LKVPPGYHP | 1 |
proximal
|
| 334R | AVQAGQL[K/R]KVPPGYHP | 0 |
direct
|
PTM Site: 346K
Affected site:
Position: 346
Residue: K
Type: acetylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 340Q | Y[H/Q]HPLDVEKEWGKLHV | 6 |
distal
|
| 346N | YHPLDVE[K/N]KEWGKLHV | 0 |
direct
|
| 352Y | YHPLDVEKEWGKL[H/Y]HV | 6 |
distal
|
External references
dbSNP:
If you have any questions or feedback about this mutation:
Contact us