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Mutation:
PANK1 I225V
Summary
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)
no data
PTM Site: 224S
Affected site:
Position: 224
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 225T | MSKEKRDS[I/T]ISKEDLA | 1 |
proximal
|
| 225V | MSKEKRDS[I/V]ISKEDLA | 1 |
proximal
|
| 224C | MSKEKRD[S/C]SISKEDLA | 0 |
direct
|
PTM Site: 227K
Affected site:
Position: 227
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 232W | EKRDSISKEDLA[R/W]RAT | 5 |
distal
|
| 225T | EKRDS[I/T]ISKEDLARAT | 2 |
proximal
|
| 225V | EKRDS[I/V]ISKEDLARAT | 2 |
proximal
|
| 224C | EKRD[S/C]SISKEDLARAT | 3 |
distal
|
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