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Mutation:
PEX16 E68D
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Peroxisome biogenesis disorders, Zellweger syndrome spectrum, Peroxisome biogenesis disorder 8A
Minor Allele Frequency: (ESP6500)
[0.1615]
Minor Allele Frequency: (1000 Genomes)
[0.25958499999999995]
PTM Site: 72K
Affected site:
Position: 72
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 70Q | LRKEL[R/Q]RKKLPVSLSQ | 2 |
proximal
|
| 69R | LRKE[L/R]LRKKLPVSLSQ | 3 |
distal
|
| 68D | LRK[E/D]ELRKKLPVSLSQ | 4 |
distal
|
| 66Q | L[R/Q]RKELRKKLPVSLSQ | 6 |
distal
|
| 66W | L[R/W]RKELRKKLPVSLSQ | 6 |
distal
|
| 76L | LRKELRKKLPV[S/L]SLSQ | 4 |
distal
|
| 71R | LRKELR[K/R]KKLPVSLSQ | 1 |
proximal
|
| 68K | LRK[E/K]ELRKKLPVSLSQ | 4 |
distal
|
| 73F | LRKELRKK[L/F]LPVSLSQ | 1 |
proximal
|
External references
dbSNP:
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