| PDB ID | 1Z2C
|
CHAIN | B |
|---|---|---|---|
| Protein name | Diaphanous protein homolog 1 | ||
| Uniprot Accession | O08808 | ||
| The number of similar proteins | 10 | ||
| The number of binding states | 5 | ||
| The number of binding partners | 4 | ||
Coloring
Unicolor (beige)
The number of binding partners
Group
| Binding state |
Binding partners |
|---|---|
| 1Z2C (CHAIN: B) | |
| 1 |
P08134
|
| 2 |
O08808
|
| 3 |
O08808
|
| 4 |
O08808
P60766
|
| 5 |
O08808
O08808
|
Downdload
Molecule viewer
|
Only interaction residues |
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Sequence information
|
Variants
| Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
|---|---|---|---|---|---|---|---|
| 160_ARG | CYS |
8.3kJPN chr5:140963080 - |
- | 0.0001 | - | - | |
| 291_ASP | ALA |
8.3kJPN chr5:140958689 - |
- | 0.0001 | - | - | |
| 303_VAL | ILE |
8.3kJPN chr5:140958192 - |
- | 0.0001 | - | - | |
| 338_LEU | SER |
8.3kJPN chr5:140958086 - |
- | 0.0001 | - | - | |
| 342_ARG | TER |
ClinVar chr5:140957904 - |
Pathogenic | - | - | Autosomal dominant nonsyndromic hearing loss 1 [MONDO:MONDO:0007424,MedGen:C1852282,OMIM:124900,Orphanet:90635]; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [MONDO:MONDO:0014714,MedGen:C5567650,OMIM:616632,Orphanet:477814] | |
| 419_PRO | HIS |
8.3kJPN chr5:140956436 rs1339899658 |
- | 0.0001 | - | - | |
| 429_ILE | VAL |
8.3kJPN chr5:140956407 - |
- | 0.0001 | - | - | |
| 434_LEU | MET |
8.3kJPN chr5:140956392 - |
- | 0.0001 | - | - |