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Mutation:
MLH1 V482A
Summary
Isoform:
Position:
482
Ref:
V
Mutation:
A
PTM impact:
distal
PTM affected:
3
Kinases:
CSNK2A1
Clinical Information
Cancer types: (TCGA MC3)
no data
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
Impact:
distalOther 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
|
PTM Site: 486S
Affected site:
Position: 486
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 481V | VE[M/V]MVEDDSRKEMTAA | 5 |
distal
|
| 481T | VE[M/T]MVEDDSRKEMTAA | 5 |
distal
|
| 481I | VE[M/I]MVEDDSRKEMTAA | 5 |
distal
|
| 482M | VEM[V/M]VEDDSRKEMTAA | 4 |
distal
|
| 482L | VEM[V/L]VEDDSRKEMTAA | 4 |
distal
|
| 482A | VEM[V/A]VEDDSRKEMTAA | 4 |
distal
|
| 483K | VEMV[E/K]EDDSRKEMTAA | 3 |
distal
|
| 484Y | VEMVE[D/Y]DDSRKEMTAA | 2 |
proximal
|
| 484G | VEMVE[D/G]DDSRKEMTAA | 2 |
proximal
|
| 485Y | VEMVED[D/Y]DSRKEMTAA | 1 |
proximal
|
| 485G | VEMVED[D/G]DSRKEMTAA | 1 |
proximal
|
| 486F | VEMVEDD[S/F]SRKEMTAA | 0 |
direct
|
| 487Q | VEMVEDDS[R/Q]RKEMTAA | 1 |
network-rewiring
|
| 487L | VEMVEDDS[R/L]RKEMTAA | 1 |
proximal
|
| 489A | VEMVEDDSRK[E/A]EMTAA | 3 |
network-rewiring
|
| 489D | VEMVEDDSRK[E/D]EMTAA | 3 |
distal
|
| 490V | VEMVEDDSRKE[M/V]MTAA | 4 |
distal
|
| 490I | VEMVEDDSRKE[M/I]MTAA | 4 |
distal
|
| 492T | VEMVEDDSRKEMT[A/T]AA | 6 |
distal
|
| 492P | VEMVEDDSRKEMT[A/P]AA | 6 |
distal
|
| 492V | VEMVEDDSRKEMT[A/V]AA | 6 |
distal
|
PTM Site: 488K
Affected site:
Position: 488
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 482M | M[V/M]VEDDSRKEMTAACT | 6 |
distal
|
| 482L | M[V/L]VEDDSRKEMTAACT | 6 |
distal
|
| 482A | M[V/A]VEDDSRKEMTAACT | 6 |
distal
|
| 483K | MV[E/K]EDDSRKEMTAACT | 5 |
distal
|
| 484Y | MVE[D/Y]DDSRKEMTAACT | 4 |
distal
|
| 484G | MVE[D/G]DDSRKEMTAACT | 4 |
distal
|
| 485Y | MVED[D/Y]DSRKEMTAACT | 3 |
distal
|
| 485G | MVED[D/G]DSRKEMTAACT | 3 |
distal
|
| 486F | MVEDD[S/F]SRKEMTAACT | 2 |
proximal
|
| 487Q | MVEDDS[R/Q]RKEMTAACT | 1 |
proximal
|
| 487L | MVEDDS[R/L]RKEMTAACT | 1 |
proximal
|
| 489A | MVEDDSRK[E/A]EMTAACT | 1 |
proximal
|
| 489D | MVEDDSRK[E/D]EMTAACT | 1 |
proximal
|
| 490V | MVEDDSRKE[M/V]MTAACT | 2 |
proximal
|
| 490I | MVEDDSRKE[M/I]MTAACT | 2 |
proximal
|
| 492T | MVEDDSRKEMT[A/T]AACT | 4 |
distal
|
| 492P | MVEDDSRKEMT[A/P]AACT | 4 |
distal
|
| 492V | MVEDDSRKEMT[A/V]AACT | 4 |
distal
|
| 493V | MVEDDSRKEMTA[A/V]ACT | 5 |
distal
|
| 494G | MVEDDSRKEMTAA[C/G]CT | 6 |
distal
|
| 494Y | MVEDDSRKEMTAA[C/Y]CT | 6 |
distal
|
External references
dbSNP:
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