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Mutation:
S100A13 H48Y
Summary
Clinical Information
Cancer types: (TCGA MC3)
SKCM
Cancer types: (PCAWG)
Skin-Melanoma
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 51K
Affected site:
Position: 51
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 54S | QQLPHLLKDV[G/S]GSLDE | 3 |
distal
|
| 54V | QQLPHLLKDV[G/V]GSLDE | 3 |
distal
|
| 48P | QQLP[H/P]HLLKDVGSLDE | 3 |
distal
|
| 48Y | QQLP[H/Y]HLLKDVGSLDE | 3 |
distal
|
| 56F | QQLPHLLKDVGS[L/F]LDE | 5 |
distal
|
PTM Site: 55S
Affected site:
Position: 55
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 54S | HLLKDV[G/S]GSLDEKMKS | 1 |
proximal
|
| 54V | HLLKDV[G/V]GSLDEKMKS | 1 |
proximal
|
| 56F | HLLKDVGS[L/F]LDEKMKS | 1 |
proximal
|
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