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Mutation:
TPM1 D28H
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Cardiovascular phenotype, Hypertrophic cardiomyopathy
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 30K
Affected site:
Position: 30
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 26G | EQA[E/G]EADKKAAEDRSK | 4 |
distal
|
| 28N | EQAEA[D/N]DKKAAEDRSK | 2 |
proximal
|
| 28H | EQAEA[D/H]DKKAAEDRSK | 2 |
proximal
|
| 33A | EQAEADKKAA[E/A]EDRSK | 3 |
distal
|
| 35K | EQAEADKKAAED[R/K]RSK | 5 |
distal
|
| 35S | EQAEADKKAAED[R/S]RSK | 5 |
distal
|
| 36G | EQAEADKKAAEDR[S/G]SK | 6 |
distal
|
| 36N | EQAEADKKAAEDR[S/N]SK | 6 |
distal
|
| 33G | EQAEADKKAA[E/G]EDRSK | 3 |
distal
|
External references
dbSNP:
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