PDB ID | 1APH | CHAIN | B |
---|---|---|---|
Protein name | INSULIN B CHAIN (PH 7) | ||
Uniprot Accession | P01317 | ||
The number of similar proteins | 527 | ||
The number of binding states | 8 | ||
The number of binding partners | 5 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1APH (CHAIN: B) | |
1 | Monomeric state |
2 | P01315 |
3 | P06213 |
4 | Q5T5N2 |
5 | 6Z7Z 6Z7Z |
6 | P01308 P01308 |
7 | P01308 P01308 P01308 |
8 | P01308 P01308 P01308 P01308 |
Only interaction residues |
|
||||||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
8_GLY | VAL |
ClinVar chr11:2182107 |
rs2133676747
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
10_HIS | PRO |
ClinVar chr11:2182101 |
rs1564912274
|
Likely pathogenic | - | Neonatal diabetes mellitus [MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224] | |
11_LEU | VAL |
ClinVar chr11:2182099 |
rs1278232284
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
11_LEU | MET |
ClinVar chr11:2182099 |
rs1278232284
|
Likely pathogenic | - | Neonatal diabetes mellitus [MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224] | |
15_LEU | PHE |
ClinVar chr11:2182087 |
rs2133676660
|
Likely pathogenic | - | Maturity-onset diabetes of the young type 10 [MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552] | |
22_ARG | TER |
ClinVar chr11:2182066 |
-
|
Likely pathogenic | - | INS-related condition [-] | |
22_ARG | TER |
8.3kJPN chr11:2182066 |
rs1225892123
|
- | 0.0001 | - | |
24_PHE | SER |
ClinVar chr11:2182059 |
rs80356668
|
Pathogenic | - | Hyperproinsulinemia [MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214] | |
24_PHE | CYS |
ClinVar chr11:2182059 |
rs80356668
|
Likely pathogenic/Likely risk allele | - | Permanent neonatal diabetes mellitus|Diabetes mellitus, permanent neonatal 4|Neonatal diabetes mellitus [MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MONDO:MONDO:0016391,MedGen:C0158981,Orphanet:224] | |
25_PHE | LEU |
ClinVar chr11:2182055 |
rs148685531
|
Pathogenic | - | Hyperproinsulinemia [MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214] | |
28_PRO | LEU |
ClinVar chr11:2182047 |
rs145038693
|
Pathogenic | - | Maturity-onset diabetes of the young type 10 [MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552] | |
28_PRO | ARG |
ClinVar chr11:2182047 |
rs145038693
|
Likely pathogenic | - | Neonatal insulin-dependent diabetes mellitus [Human Phenotype Ontology:HP:0000857,MedGen:C3278636] |