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Mutation:
ACTN2 T713M
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Dilated cardiomyopathy 1AA
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 715Y
Affected site:
Position: 715
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 715H | FDNKHTN[Y/H]YTMEHIRV | 0 |
direct
|
| 716M | FDNKHTNY[T/M]TMEHIRV | 1 |
proximal
|
| 716R | FDNKHTNY[T/R]TMEHIRV | 1 |
proximal
|
| 713M | FDNKH[T/M]TNYTMEHIRV | 2 |
proximal
|
| 712N | FDNK[H/N]HTNYTMEHIRV | 3 |
distal
|
External references
dbSNP:
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