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Mutation:
ERCC3 S640L
Summary
Isoform:
Position:
640
Ref:
S
Mutation:
L
PTM impact:
proximal
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Xeroderma pigmentosum, complementation group b
Minor Allele Frequency: (ESP6500)
[0.1922]
Minor Allele Frequency: (1000 Genomes)
[0.09984029999999999]
PTM Site: 642K
Affected site:
Position: 642
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 640L | EDLAF[S/L]STKEEQQQLL | 2 |
proximal
|
| 638V | EDL[A/V]AFSTKEEQQQLL | 4 |
distal
|
| 646E | EDLAFSTKEEQ[Q/E]QQLL | 4 |
distal
|
External references
dbSNP:
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