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Mutation:
TMPO S177G
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Loeys-Dietz syndrome 2
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 172T
Affected site:
Position: 172
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 166Y | I[S/Y]SSSAENTRQNGSND | 6 |
distal
|
| 166C | I[S/C]SSSAENTRQNGSND | 6 |
distal
|
| 177G | ISSSAENTRQNG[S/G]SND | 5 |
distal
|
| 170Q | ISSSA[E/Q]ENTRQNGSND | 2 |
network-rewiring
|
| 174H | ISSSAENTR[Q/H]QNGSND | 2 |
proximal
|
PTM Site: 177S
Affected site:
Position: 177
Residue: S
Type: phosphorylation
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 177G | ENTRQNG[S/G]SNDSDRYS | 0 |
direct
|
| 174H | ENTR[Q/H]QNGSNDSDRYS | 3 |
distal
|
PTM Site: 180S
Affected site:
Position: 180
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 177G | RQNG[S/G]SNDSDRYSDNE | 3 |
distal
|
| 186S | RQNGSNDSDRYSD[N/S]NE | 6 |
distal
|
| 185H | RQNGSNDSDRYS[D/H]DNE | 5 |
distal
|
| 174H | R[Q/H]QNGSNDSDRYSDNE | 6 |
distal
|
PTM Site: 183Y
Affected site:
Position: 183
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 177G | G[S/G]SNDSDRYSDNEEDS | 6 |
distal
|
| 186S | GSNDSDRYSD[N/S]NEEDS | 3 |
distal
|
| 185H | GSNDSDRYS[D/H]DNEEDS | 2 |
proximal
|
PTM Site: 184S
Affected site:
Position: 184
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 186S | SNDSDRYSD[N/S]NEEDSK | 2 |
proximal
|
| 185H | SNDSDRYS[D/H]DNEEDSK | 1 |
proximal
|
External references
dbSNP:
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