PDB ID | 3W11
|
CHAIN | E |
---|---|---|---|
Protein name | Insulin receptor domains L1-CR | ||
Uniprot Accession | P06213 | ||
The number of similar proteins | 7 | ||
The number of binding states | 4 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3W11 (CHAIN: E) | |
1 |
![]() ![]() ![]() |
2 | Monomeric state |
3 |
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4 |
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Only interaction residues |
|
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|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
15_ASN | LYS | VAR_004079 |
rs121913143
|
Disease | - | Rabson-Mendenhall syndrome (RMS) [MIM:262190] | |
15_ASN | LYS |
ClinVar chr19:7267882 |
rs121913143
|
Pathogenic | - | Pineal hyperplasia AND diabetes mellitus syndrome [MedGen:C0271695,OMIM:262190,Orphanet:ORPHA769,SNOMED CT:33559001] | |
24_GLU | LYS |
gnomAD chr19:7267857 |
rs140852238
|
- | 0.000453677 | - | |
28_VAL | ALA | VAR_004080 |
rs121913152
|
Disease | - | Leprechaunism (LEPRCH) [MIM:246200] | |
28_VAL | ALA |
ClinVar chr19:7267844 |
rs121913152
|
Pathogenic | - | Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005] | |
29_ILE | THR | VAR_079535 |
-
|
Disease | - | Leprechaunism (LEPRCH) [MIM:246200] | |
29_ILE | THR |
ClinVar chr19:7267841 |
rs1555689937
|
Pathogenic | - | Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005] | |
31_GLY | ARG | VAR_004081 |
rs52836744
|
Disease | - | Leprechaunism (LEPRCH) [MIM:246200] | |
31_GLY | ARG |
ClinVar chr19:7267836 |
rs52836744
|
Pathogenic | - | Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005] | |
59_ASP | GLY | VAR_015907 |
-
|
Disease | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
62_LEU | PRO | VAR_015908 |
-
|
Disease | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
65_ARG | TRP |
8.3kJPN chr19:7267734 |
-
|
- | 0.0001 | - | |
86_ARG | PRO | VAR_004082 |
rs121913153
|
Disease | - | Leprechaunism (LEPRCH) [MIM:246200] | |
86_ARG | PRO |
ClinVar chr19:7267670 |
rs121913153
|
Pathogenic | - | Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005] | |
92_ALA | VAL | VAR_015909 |
rs1347473020
|
Disease | - | Leprechaunism (LEPRCH) [MIM:246200] | |
93_LEU | GLN | VAR_031518 |
-
|
Disease | - | Leprechaunism (LEPRCH) [MIM:246200] | |
105_GLY | SER |
ClinVar chr19:7267614 |
rs886037750
|
Pathogenic | - | Pineal hyperplasia AND diabetes mellitus syndrome [MedGen:C0271695,OMIM:262190,Orphanet:ORPHA769,SNOMED CT:33559001] | |
118_ARG | SER |
8.3kJPN chr19:7267575 |
-
|
- | 0.0002 | - | |
119_ILE | MET | VAR_015539 |
rs121913159
|
Disease | - | Leprechaunism (LEPRCH) [MIM:246200] | |
119_ILE | MET |
ClinVar chr19:7267570 |
rs121913159
|
Pathogenic | - | Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005] | |
121_LYS | TER |
ClinVar chr19:7267566 |
rs121913155
|
Pathogenic | - | Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005] | |
133_TRP | TER |
ClinVar chr19:7267529 |
rs121913146
|
Pathogenic | - | Insulin-resistant diabetes mellitus AND acanthosis nigricans [MedGen:C0342278,OMIM:610549,SNOMED CT:9859006] | |
140_VAL | LEU | VAR_015910 |
rs938519025
|
Disease | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
152_ASN | ASP |
8.3kJPN chr19:7267473 |
-
|
- | 0.0001 | - | |
171_ALA | THR |
8.3kJPN chr19:7267416 |
-
|
- | 0.0001 | - | |
176_GLY | ARG |
gnomAD chr19:7267401 |
rs545565240
|
- | 0.000178959 | - | |
193_PRO | LEU | VAR_004083 |
rs749094324
|
Polymorphism | - | - | |
201_CYS | ARG | VAR_041429 |
-
|
Unclassified | - | A gastric adenocarcinoma sample | |
209_HIS | ARG | VAR_004084 |
rs121913145
|
Disease | - | Leprechaunism (LEPRCH) [MIM:246200] | |
209_HIS | ARG |
ClinVar chr19:7184594 |
rs121913145
|
Pathogenic | - | Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005] | |
213_LEU | PRO |
8.3kJPN chr19:7184582 |
-
|
- | 0.0001 | - | |
224_LYS | ASN |
8.3kJPN chr19:7184548 |
-
|
- | 0.0001 | - | |
229_ARG | CYS | VAR_079536 |
rs781007453
|
Disease | - | Rabson-Mendenhall syndrome (RMS) [MIM:262190] | |
229_ARG | CYS |
8.3kJPN chr19:7184535 |
rs781007453
|
- | 0.0001 | - | |
233_LEU | PRO | VAR_004085 |
rs121913141
|
Disease | - | Leprechaunism (LEPRCH) [MIM:246200] | |
233_LEU | PRO |
ClinVar chr19:7184522 |
rs121913141
|
Pathogenic | - | Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005] | |
242_PRO | LEU |
8.3kJPN chr19:7184495 |
rs1448475843
|
- | 0.0001 | - | |
244_PRO | LEU |
8.3kJPN chr19:7184489 |
rs200199169
|
- | 0.0001 | - | |
244_PRO | SER |
8.3kJPN chr19:7184490 |
rs537134904
|
- | 0.0001 | - | |
252_ARG | CYS | VAR_015540 |
-
|
Disease | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
252_ARG | HIS | VAR_031519 |
rs1329693158
|
Disease | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
253_CYS | TYR | VAR_015911 |
-
|
Disease | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
259_CYS | TYR | VAR_079537 |
-
|
Disease | - | Leprechaunism (LEPRCH) [MIM:246200] | |
259_CYS | SER |
8.3kJPN chr19:7184444 |
-
|
- | 0.0001 | - | |
293_THR | MET |
gnomAD chr19:7184342 |
rs138528064
|
- | 0.000203087 | - | |
299_LEU | PHE |
8.3kJPN chr19:7174739 |
-
|
- | 0.0001 | - | |
307_PRO | LEU |
8.3kJPN chr19:7174716 |
rs373995681
|
- | 0.0001 | - |