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Mutation:
PEX16 R70Q
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Peroxisome biogenesis disorders, Zellweger syndrome spectrum
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 72K
Affected site:
Position: 72
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 71R | LRKELR[K/R]KKLPVSLSQ | 1 |
proximal
|
| 73F | LRKELRKK[L/F]LPVSLSQ | 1 |
proximal
|
| 70Q | LRKEL[R/Q]RKKLPVSLSQ | 2 |
proximal
|
| 69R | LRKE[L/R]LRKKLPVSLSQ | 3 |
distal
|
| 68D | LRK[E/D]ELRKKLPVSLSQ | 4 |
distal
|
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