You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
MLH1 R474W
Summary
Isoform:
Position:
474
Ref:
R
Mutation:
W
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
CSNK2A1
Clinical Information
Cancer types: (TCGA MC3)
UCEC
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 477S
Affected site:
Position: 477
Residue: S
Type: phosphorylation
Best loss of PTM site:
RPS6KA1 (probability p=1.0)
Site: 477S (phosphorylation)
Position in motif: -3
There are 6 other predicted
losses:
- RPS6KB1 (p=0.927)
- PRKACA (p=0.906)
- SGK1 (p=0.892)
- PAK1 (p=0.888)
- PRKAA1 (p=0.869)
- PRKD1 (p=0.868)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 471E | R[K/E]KRHREDSDVEMVED | 6 |
distal
|
| 472K | RK[R/K]RHREDSDVEMVED | 5 |
distal
|
| 473Y | RKR[H/Y]HREDSDVEMVED | 4 |
distal
|
| 473R | RKR[H/R]HREDSDVEMVED | 4 |
distal
|
| 474G | RKRH[R/G]REDSDVEMVED | 3 |
network-rewiring
|
| 474W | RKRH[R/W]REDSDVEMVED | 3 |
network-rewiring
|
| 474Q | RKRH[R/Q]REDSDVEMVED | 3 |
network-rewiring
|
| 478Y | RKRHREDS[D/Y]DVEMVED | 1 |
proximal
|
| 478V | RKRHREDS[D/V]DVEMVED | 1 |
proximal
|
| 479L | RKRHREDSD[V/L]VEMVED | 2 |
proximal
|
| 481V | RKRHREDSDVE[M/V]MVED | 4 |
distal
|
| 481T | RKRHREDSDVE[M/T]MVED | 4 |
distal
|
| 481I | RKRHREDSDVE[M/I]MVED | 4 |
distal
|
| 482M | RKRHREDSDVEM[V/M]VED | 5 |
distal
|
| 482L | RKRHREDSDVEM[V/L]VED | 5 |
distal
|
| 482A | RKRHREDSDVEM[V/A]VED | 5 |
distal
|
| 483K | RKRHREDSDVEMV[E/K]ED | 6 |
distal
|
External references
dbSNP:
If you have any questions or feedback about this mutation:
Contact us