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Mutation:
FHL2 E103K
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Primary dilated cardiomyopathy
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 100K
Affected site:
Position: 100
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 103K | YSNEYSSKCQ[E/K]ECKKT | 3 |
distal
|
| 95K | YS[N/K]NEYSSKCQECKKT | 5 |
distal
|
| 95S | YS[N/S]NEYSSKCQECKKT | 5 |
distal
|
PTM Site: 106K
Affected site:
Position: 106
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 103K | SKCQ[E/K]ECKKTIMPGTR | 3 |
distal
|
| 109R | SKCQECKKTI[M/R]MPGTR | 3 |
distal
|
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