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Mutation:
TSC1 E663V
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Tuberous sclerosis 1
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 662K
Affected site:
Position: 662
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 663V | QGADAHSK[E/V]ELNKLPL | 1 |
proximal
|
| 665K | QGADAHSKEL[N/K]NKLPL | 3 |
distal
|
| 659V | QGAD[A/V]AHSKELNKLPL | 3 |
distal
|
| 659T | QGAD[A/T]AHSKELNKLPL | 3 |
distal
|
| 666R | QGADAHSKELN[K/R]KLPL | 4 |
distal
|
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