| PDB ID | 1N5G
|
CHAIN | A |
|---|---|---|---|
| Protein name | 38-mer of DNA polymerase alpha catalytic subunit | ||
| Uniprot Accession | P09884 | ||
| The number of similar proteins | 3 | ||
| The number of binding states | 1 | ||
| The number of binding partners | 0 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1N5G (CHAIN: A) | |
| 1 | Monomeric state |
Downdload
Molecule viewer
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Only interaction residues |
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Sequence information
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Variants
| Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
|---|---|---|---|---|---|---|---|
| 12_ARG | GLN |
8.3kJPN chrX:24906160 |
-
|
- | 0.0001 | - | |
| 37_PRO | LEU | VAR_083196 |
rs1569350993
|
LP/P | - | Van Esch-O'Driscoll syndrome (VEODS) [MIM:301030] | |
| 37_PRO | LEU |
ClinVar chrX:24906235 |
rs1569350993
|
Pathogenic | - | X-linked intellectual disability, van Esch type [MONDO:MONDO:0015601,MedGen:C4305072,OMIM:301030,Orphanet:163976] |