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Mutation:
PEX1 R450T
Summary
Clinical Information
Cancer types: (TCGA MC3)
HNSC, BLCA
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
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
|
PTM Site: 455K
Affected site:
Position: 455
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 460D | QPRENLPKDISE[E/D]EDI | 5 |
distal
|
| 457V | QPRENLPKD[I/V]ISEEDI | 2 |
proximal
|
| 450T | QP[R/T]RENLPKDISEEDI | 5 |
distal
|
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