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Mutation:
FHL2 C92R
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Primary dilated cardiomyopathy
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 93Y
Affected site:
Position: 93
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 92R | QLLCTD[C/R]CYSNEYSSK | 1 |
proximal
|
| 95K | QLLCTDCYS[N/K]NEYSSK | 2 |
proximal
|
| 95S | QLLCTDCYS[N/S]NEYSSK | 2 |
proximal
|
External references
dbSNP:
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