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 |
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3 |
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4 |
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5 |
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6 |
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7 |
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8 |
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Only interaction residues |
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Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
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] |