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 |
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 |
Only interaction residues |
|
||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
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 | - |