| PDB ID | 1FU1
|
CHAIN | A |
|---|---|---|---|
| Protein name | DNA REPAIR PROTEIN XRCC4 | ||
| Uniprot Accession | Q13426 | ||
| The number of similar proteins | 7 | ||
| The number of binding states | 4 | ||
| The number of binding partners | 4 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
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) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 1_MET | ILE |
8.3kJPN chr5:82400741 - |
- | 0.0001 | 0.5256 | - | |
| 3_ARG | SER |
8.3kJPN chr5:82400747 rs772350571 |
- | 0.0001 | 0.4605 | - | |
| 12_SER | CYS |
VAR_022310
rs28383138 |
LB/B | - | 0.1534 | - | |
| 12_SER | CYS |
gnomAD chr5:82400773 rs28383138 |
- | 0.00183176 | 0.1534 | - | |
| 43_TRP | ARG |
VAR_075822
rs587779351 |
LP/P | - | 0.9806 | Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] | |
| 43_TRP | ARG |
ClinVar chr5:82400865 rs587779351 |
Pathogenic/Likely pathogenic | - | 0.9806 | Ateleiotic dwarfism|Short stature, microcephaly, and endocrine dysfunction|not provided [MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631|MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182|MedGen:C3661900] | |
| 43_TRP | ARG |
ClinVar chr5:82400865 rs587779351 |
Pathogenic | - | 0.9806 | Short stature, microcephaly, and endocrine dysfunction [MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182] | |
| 56_ALA | THR |
VAR_022311
rs28383151 |
LB/B | - | 0.6471 | - | |
| 56_ALA | THR |
gnomAD chr5:82406873 rs28383151 |
- | 0.000428771 | 0.6471 | - | |
| 70_LEU | PRO |
8.3kJPN chr5:82406916 rs759064378 |
- | 0.0003 | 0.9831 | - | |
| 74_LEU | PHE |
8.3kJPN chr5:82406929 - |
- | 0.0001 | 0.1764 | - | |
| 75_LEU | SER |
gnomAD chr5:82406931 rs61762970 |
- | 0.00140904 | 0.2113 | - | |
| 82_ASP | GLU |
VAR_084965
- |
LP/P | - | 0.1437 | Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] | |
| 82_ASP | GLU |
ClinVar chr5:82406953 rs879255258 |
Pathogenic | - | 0.1437 | Short stature, microcephaly, and endocrine dysfunction [MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182] | |
| 103_ASP | ASN |
gnomAD chr5:82407014 rs144653114 |
- | 0.000773597 | 0.1314 | - | |
| 134_ILE | THR |
gnomAD chr5:82491674 rs28360135 |
- | 0.0255348 | - | - | |
| 137_ASN | LYS |
gnomAD chr5:82491684 rs56334522 |
- | 0.00131651 | 0.1353 | - | |
| 142_GLU | GLN |
VAR_022313
rs28360136 |
LB/B | - | 0.0959 | - | |
| 142_GLU | GLN |
gnomAD chr5:82491697 rs28360136 |
- | 0.000438701 | 0.0959 | - | |
| 161_ARG | GLN |
VAR_075823
rs797045017 |
LP/P | - | 0.1021 | Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] | |
| 161_ARG | TER |
ClinVar chr5:82491754 rs779773463 |
Pathogenic/Likely pathogenic | - | - | Short stature, microcephaly, and endocrine dysfunction|XRCC4-related condition|not provided [MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182||MedGen:C3661900] | |
| 161_ARG | GLN |
ClinVar chr5:82491755 rs797045017 |
Pathogenic | - | 0.1021 | Short stature, microcephaly, and endocrine dysfunction [MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182] | |
| 177_TYR | CYS |
8.3kJPN chr5:82499418 rs777300742 |
- | 0.0001 | 0.559 | - |