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Mutation:
GMIP P419L
Summary
Isoform:
Position:
419
Ref:
P
Mutation:
L
PTM impact:
network-rewiring
PTM affected:
4
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0231]
Minor Allele Frequency: (1000 Genomes)
[0.17971199999999998]
PTM Site: 414T
Affected site:
Position: 414
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
419L | TGWRWQGTPGPT[P/L]PGS | 5 |
distal
|
410H | TGW[R/H]RWQGTPGPTPGS | 4 |
distal
|
PTM Site: 418T
Affected site:
Position: 418
Residue: T
Type: phosphorylation
Only gain of PTM site:
PRKDC (probability p=0.978)
Site: 418T (phosphorylation)
Position in motif: 1
Best loss of PTM site:
MAPK1 (probability p=0.947)
Site: 418T (phosphorylation)
Position in motif: 1
There are 8 other predicted
losses:
- MAPK3 (p=0.944)
- MAPK14 (p=0.939)
- CDK1 (p=0.921)
- MAPK8 (p=0.912)
- GSK3B (p=0.911)
- HIPK2 (p=0.899)
- CDK2 (p=0.895)
- CDK5 (p=0.851)
Other known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
419L | WQGTPGPT[P/L]PGSDVDS | 1 |
network-rewiring
|
PTM Site: 421S
Affected site:
Position: 421
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
426M | TPGPTPGSDVDS[V/M]VGG | 5 |
distal
|
419L | TPGPT[P/L]PGSDVDSVGG | 2 |
proximal
|
PTM Site: 425S
Affected site:
Position: 425
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
431Q | TPGSDVDSVGGGS[E/Q]ES | 6 |
distal
|
426M | TPGSDVDS[V/M]VGGGSES | 1 |
proximal
|
419L | T[P/L]PGSDVDSVGGGSES | 6 |
distal
|
429C | TPGSDVDSVGG[G/C]GSES | 4 |
distal
|
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