You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
HPSE2 R186T
Summary
Isoform:
Position:
186
Ref:
R
Mutation:
T
PTM impact:
network-rewiring
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
BLCA
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 188S
Affected site:
Position: 188
Residue: S
Type: phosphorylation
Best loss of PTM site:
AURKA (probability p=0.985)
Site: 188S (phosphorylation)
Position in motif: -2
There are 3 other predicted
losses:
- PRKACA (p=0.955)
- PRKCD (p=0.938)
- AURKB (p=0.919)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 187T | IRIYSR[A/T]ASLYGPNIG | 1 |
proximal
|
| 182W | I[R/W]RIYSRASLYGPNIG | 6 |
distal
|
| 191C | IRIYSRASLY[G/C]GPNIG | 3 |
distal
|
| 186T | IRIYS[R/T]RASLYGPNIG | 2 |
network-rewiring
|
| 189V | IRIYSRAS[L/V]LYGPNIG | 1 |
proximal
|
PTM Site: 190Y
Affected site:
Position: 190
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 187T | IYSR[A/T]ASLYGPNIGRP | 3 |
distal
|
| 191C | IYSRASLY[G/C]GPNIGRP | 1 |
proximal
|
| 186T | IYS[R/T]RASLYGPNIGRP | 4 |
distal
|
| 189V | IYSRAS[L/V]LYGPNIGRP | 1 |
proximal
|
If you have any questions or feedback about this mutation:
Contact us