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Mutation:
PEX1 P442S
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Peroxisome biogenesis disorder 1A (Zellweger)
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.09984029999999999]
PTM Site: 438T
Affected site:
Position: 438
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 442S | RITPVEVTPKI[P/S]PRSL | 4 |
distal
|
| 432R | R[I/R]ITPVEVTPKIPRSL | 6 |
distal
|
| 433I | RI[T/I]TPVEVTPKIPRSL | 5 |
distal
|
PTM Site: 446K
Affected site:
Position: 446
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 442S | PKI[P/S]PRSLKLQPRENL | 4 |
distal
|
| 450T | PKIPRSLKLQP[R/T]RENL | 4 |
distal
|
External references
dbSNP:
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