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Mutation:
AURKC I79V
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Infertility associated with multi-tailed spermatozoa and excessive DNA
Minor Allele Frequency: (ESP6500)
[0.2153]
Minor Allele Frequency: (1000 Genomes)
[0.219649]
PTM Site: 76K
Affected site:
Position: 76
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 70G | V[A/G]ALKVLFKSQIEKEG | 6 |
distal
|
| 79V | VALKVLFKSQ[I/V]IEKEG | 3 |
distal
|
| 79T | VALKVLFKSQ[I/T]IEKEG | 3 |
distal
|
| 77L | VALKVLFK[S/L]SQIEKEG | 1 |
proximal
|
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