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Mutation:
TPM1 E54K
Summary
Isoform:
Position:
54
Ref:
E
Mutation:
K
PTM impact:
distal
PTM affected:
3
Kinases:
PIK3CA
Clinical Information
Cancer types: (TCGA MC3)
LGG
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Dilated cardiomyopathy 1Y
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 48K
Affected site:
Position: 48
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 47R | DELVSL[Q/R]QKKLKGTED | 1 |
proximal
|
| 50I | DELVSLQKK[L/I]LKGTED | 2 |
proximal
|
| 50F | DELVSLQKK[L/F]LKGTED | 2 |
proximal
|
| 51T | DELVSLQKKL[K/T]KGTED | 3 |
distal
|
| 51R | DELVSLQKKL[K/R]KGTED | 3 |
distal
|
| 52S | DELVSLQKKLK[G/S]GTED | 4 |
distal
|
| 54K | DELVSLQKKLKGT[E/K]ED | 6 |
distal
|
PTM Site: 59K
Affected site:
Position: 59
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 54K | GT[E/K]EDELDKYSEALKD | 5 |
distal
|
| 55N | GTE[D/N]DELDKYSEALKD | 4 |
distal
|
| 55Y | GTE[D/Y]DELDKYSEALKD | 4 |
distal
|
| 55G | GTE[D/G]DELDKYSEALKD | 4 |
distal
|
| 58H | GTEDEL[D/H]DKYSEALKD | 1 |
proximal
|
| 60C | GTEDELDK[Y/C]YSEALKD | 1 |
proximal
|
| 61C | GTEDELDKY[S/C]SEALKD | 2 |
proximal
|
| 62Q | GTEDELDKYS[E/Q]EALKD | 3 |
distal
|
| 62G | GTEDELDKYS[E/G]EALKD | 3 |
distal
|
| 63V | GTEDELDKYSE[A/V]ALKD | 4 |
distal
|
PTM Site: 61S
Affected site:
Position: 61
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 55N | E[D/N]DELDKYSEALKDAQ | 6 |
distal
|
| 55Y | E[D/Y]DELDKYSEALKDAQ | 6 |
distal
|
| 55G | E[D/G]DELDKYSEALKDAQ | 6 |
distal
|
| 58H | EDEL[D/H]DKYSEALKDAQ | 3 |
distal
|
| 60C | EDELDK[Y/C]YSEALKDAQ | 1 |
proximal
|
| 61C | EDELDKY[S/C]SEALKDAQ | 0 |
direct
|
| 62Q | EDELDKYS[E/Q]EALKDAQ | 1 |
network-rewiring
|
| 62G | EDELDKYS[E/G]EALKDAQ | 1 |
proximal
|
| 63V | EDELDKYSE[A/V]ALKDAQ | 2 |
proximal
|
| 66N | EDELDKYSEALK[D/N]DAQ | 5 |
distal
|
| 66H | EDELDKYSEALK[D/H]DAQ | 5 |
distal
|
External references
dbSNP:
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