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Mutation:
MCPH1 Q64R
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0085]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 62K
Affected site:
Position: 62
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 56C | G[Y/C]YQSTWDKAQKRGVK | 6 |
distal
|
| 61G | GYQSTW[D/G]DKAQKRGVK | 1 |
proximal
|
| 57H | GY[Q/H]QSTWDKAQKRGVK | 5 |
distal
|
| 64R | GYQSTWDKA[Q/R]QKRGVK | 2 |
proximal
|
| 67R | GYQSTWDKAQKR[G/R]GVK | 5 |
distal
|
| 56N | G[Y/N]YQSTWDKAQKRGVK | 6 |
distal
|
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