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Mutation:
NSMCE3 P209L
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Lung disease, immunodeficiency, and chromosome breakage syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 211K
Affected site:
Position: 211
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 209L | RLGVY[P/L]PTKKHLIFGD | 2 |
proximal
|
| 208S | RLGV[Y/S]YPTKKHLIFGD | 3 |
distal
|
| 207I | RLG[V/I]VYPTKKHLIFGD | 4 |
distal
|
| 217R | RLGVYPTKKHLIF[G/R]GD | 6 |
distal
|
| 216L | RLGVYPTKKHLI[F/L]FGD | 5 |
distal
|
| 211N | RLGVYPT[K/N]KKHLIFGD | 0 |
direct
|
PTM Site: 212K
Affected site:
Position: 212
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 209L | LGVY[P/L]PTKKHLIFGDP | 3 |
distal
|
| 208S | LGV[Y/S]YPTKKHLIFGDP | 4 |
distal
|
| 207I | LG[V/I]VYPTKKHLIFGDP | 5 |
distal
|
| 217R | LGVYPTKKHLIF[G/R]GDP | 5 |
distal
|
| 216L | LGVYPTKKHLI[F/L]FGDP | 4 |
distal
|
| 211N | LGVYPT[K/N]KKHLIFGDP | 1 |
proximal
|
External references
dbSNP:
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