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Mutation:
ACTN2 R721S
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Dilated cardiomyopathy 1AA, Cardiomyopathy, Cardiovascular phenotype, Familial hypertrophic cardiomyopathy 1
Minor Allele Frequency: (ESP6500)
[0.0308]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 715Y
Affected site:
Position: 715
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 713M | FDNKH[T/M]TNYTMEHIRV | 2 |
proximal
|
| 716M | FDNKHTNY[T/M]TMEHIRV | 1 |
proximal
|
| 721S | FDNKHTNYTMEHI[R/S]RV | 6 |
distal
|
| 721C | FDNKHTNYTMEHI[R/C]RV | 6 |
distal
|
| 721P | FDNKHTNYTMEHI[R/P]RV | 6 |
distal
|
| 715H | FDNKHTN[Y/H]YTMEHIRV | 0 |
direct
|
| 716R | FDNKHTNY[T/R]TMEHIRV | 1 |
proximal
|
| 721H | FDNKHTNYTMEHI[R/H]RV | 6 |
distal
|
| 709Y | F[D/Y]DNKHTNYTMEHIRV | 6 |
distal
|
| 712N | FDNK[H/N]HTNYTMEHIRV | 3 |
distal
|
External references
dbSNP:
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