PDB ID | 3BU6 | CHAIN | A |
---|---|---|---|
Protein name | insulin receptor subunit beta | ||
Uniprot Accession | P06213 | ||
The number of similar proteins | 22 | ||
The number of binding states | 4 | ||
The number of binding partners | 4 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3BU6 (CHAIN: A) | |
1 | Monomeric state |
2 | Q14449 |
3 | Q9Z200 Q9Z200 |
4 | P06213 P18031 |
Only interaction residues |
|
||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
988_GLU | ALA |
8.3kJPN chr19:7125508 |
-
|
- | 0.0001 | - | |
993_ARG | GLN | VAR_004092 |
rs121913148
|
LP/P | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
993_ARG | GLN |
ClinVar chr19:7125493 |
rs121913148
|
Likely pathogenic | - | Insulin-resistant diabetes mellitus AND acanthosis nigricans|Rabson-Mendenhall syndrome [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297|MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769]; Leprechaunism syndrome [MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508]; Hyperinsulinism due to INSR deficiency [MONDO:MONDO:0012381,MedGen:C1864952,OMIM:609968,Orphanet:263458]; Insulin-resistant diabetes mellitus AND acanthosis nigricans [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297] | |
996_ILE | PHE | VAR_015922 |
-
|
LB/B | - | - | |
1000_ARG | TER |
ClinVar chr19:7125473 |
rs121913144
|
Pathogenic | - | Rabson-Mendenhall syndrome|Insulin-resistant diabetes mellitus AND acanthosis nigricans [MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769|MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297] | |
1000_ARG | TER |
8.3kJPN chr19:7125473 |
rs121913144
|
- | 0.0001 | - | |
1008_GLY | VAL | VAR_004093 |
rs121913135
|
LP/P | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
1008_GLY | VAL |
ClinVar chr19:7125448 |
rs121913135
|
Pathogenic | - | Insulin-resistant diabetes mellitus AND acanthosis nigricans [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297] | |
1012_GLU | ASP |
8.3kJPN chr15:99478141 |
-
|
- | 0.0001 | - | |
1021_ASP | HIS |
8.3kJPN chr15:99478166 |
-
|
- | 0.0001 | - | |
1021_GLY | ASP |
8.3kJPN chr19:7125409 |
rs200921389
|
- | 0.0068 | - | |
1026_ARG | HIS |
8.3kJPN chr19:7125394 |
rs748109926
|
- | 0.0001 | - | |
1027_VAL | MET | VAR_079549 |
rs1135401741
|
US | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
1028_ALA | VAL | VAR_015923 |
rs1599874183
|
LP/P | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
1028_ALA | VAL |
ClinVar chr19:7125388 |
rs1599874183
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
1038_LEU | VAL | VAR_041432 |
rs56395521
|
LB/B | - | - | |
1038_LEU | VAL |
gnomAD chr19:7125359 |
rs56395521
|
- | 0.000282673 | - | |
1039_ARG | GLN |
8.3kJPN chr19:7125355 |
rs372010924
|
- | 0.0002 | - | |
1041_ARG | GLN |
8.3kJPN chr19:7125349 |
rs367827848
|
- | 0.0001 | - | |
1048_ALA | ASP | VAR_004094 |
-
|
LP/P | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
1051_MET | ILE |
ClinVar chr15:99478258 |
rs1596468719
|
Likely pathogenic | - | Growth delay due to insulin-like growth factor I resistance [MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273] | |
1051_MET | ILE |
ClinVar chr19:7125318 |
rs2144813778
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
1055_ASN | SER |
8.3kJPN chr15:99478269 |
rs780382569
|
- | 0.0005 | - | |
1061_ARG | TER |
ClinVar chr15:99478548 |
-
|
Pathogenic | - | not provided [MedGen:CN517202] | |
1068_LYS | GLU | VAR_015924 |
rs909008899
|
LB/B | - | - | |
1089_ARG | CYS |
8.3kJPN chr19:7122913 |
rs749951195
|
- | 0.0001 | - | |
1092_ARG | TRP | VAR_015925 |
rs1229730671
|
LP/P | - | Leprechaunism (LEPRCH) [MIM:246200] | |
1101_ARG | HIS |
8.3kJPN chr19:7122771 |
rs202160383
|
- | 0.0001 | - | |
1109_MET | ILE |
gnomAD chr19:7122746 |
rs776740574
|
- | 0.000353916 | - | |
1110_ILE | VAL |
8.3kJPN chr15:99482469 |
-
|
- | 0.0001 | - | |
1113_ALA | VAL |
8.3kJPN chr19:7122735 |
rs772334614
|
- | 0.0001 | - | |
1116_ILE | THR | VAR_015926 |
-
|
LP/P | - | Rabson-Mendenhall syndrome (RMS) [MIM:262190] | |
1124_ASN | THR |
8.3kJPN chr15:99482512 |
-
|
- | 0.0001 | - | |
1131_ARG | GLN | VAR_015927 |
-
|
LP/P | - | Type 2 diabetes mellitus (T2D) [MIM:125853] | |
1131_ARG | TRP | VAR_015928 |
rs111993466
|
LP/P | - | Rabson-Mendenhall syndrome (RMS) [MIM:262190] | |
1134_ALA | THR | VAR_004095 |
rs121913139
|
LP/P | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
1134_ALA | THR |
ClinVar chr19:7122673 |
rs121913139
|
Pathogenic | - | Insulin resistance|Insulin-resistant diabetes mellitus AND acanthosis nigricans [Human Phenotype Ontology:HP:0000855,MedGen:C0021655|MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297] | |
1135_ALA | GLU | VAR_004096 |
rs121913154
|
LP/P | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
1135_ALA | GLU |
ClinVar chr19:7122669 |
rs121913154
|
Pathogenic | - | Insulin-resistant diabetes mellitus AND acanthosis nigricans [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297] | |
1149_GLY | ARG |
ClinVar chr15:99482586 |
rs1596472892
|
Pathogenic/Likely pathogenic | - | Growth delay due to insulin-like growth factor I resistance|not provided [MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273|MedGen:CN517202] | |
1152_GLY | ASP |
ClinVar chr15:99486158 |
rs1596476061
|
Likely pathogenic | - | NK-cell enteropathy [MONDO:MONDO:0016996,MedGen:C4509932,Orphanet:263665] | |
1153_MET | ILE | VAR_004097 |
rs121913157
|
LB/B | - | - | |
1164_ARG | GLN | VAR_004098 |
rs121913150
|
LP/P | - | Type 2 diabetes mellitus (T2D) [MIM:125853] | |
1164_ARG | GLN |
ClinVar chr19:7120718 |
rs121913150
|
Pathogenic | - | Type 2 diabetes mellitus [Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853] | |
1174_ARG | GLN | VAR_015929 |
rs121913156
|
LP/P | - | Hyperinsulinemic hypoglycemia, familial, 5 (HHF5) [MIM:609968] | |
1174_ARG | TRP | VAR_015930 |
rs1568426700
|
LP/P | - | Leprechaunism (LEPRCH) [MIM:246200] | |
1174_ARG | GLN |
ClinVar chr19:7120688 |
rs121913156
|
Pathogenic | - | Insulin-resistant diabetes mellitus AND acanthosis nigricans|Hyperinsulinism due to INSR deficiency|not provided [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297|MONDO:MONDO:0012381,MedGen:C1864952,OMIM:609968,Orphanet:263458|MedGen:CN517202] | |
1174_ARG | TRP |
ClinVar chr19:7120689 |
rs1568426700
|
Pathogenic | - | Insulin resistance [Human Phenotype Ontology:HP:0000855,MedGen:C0021655] | |
1177_SER | TYR |
ClinVar chr15:99486233 |
rs1596476163
|
Likely pathogenic | - | Growth delay due to insulin-like growth factor I resistance [MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273] | |
1178_PRO | LEU | VAR_004099 |
rs1295645322
|
LP/P | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
1179_GLU | ASP | VAR_015931 |
-
|
LP/P | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
1179_GLU | LYS | VAR_015932 |
-
|
LP/P | - | Leprechaunism (LEPRCH) [MIM:246200] | |
1190_SER | TRP |
ClinVar chr15:99486272 |
-
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
1193_TRP | LEU | VAR_004100 |
rs52800171
|
LP/P | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
1194_SER | ALA |
8.3kJPN chr19:7119593 |
rs201979105
|
- | 0.0004 | - | |
1200_TRP | SER | VAR_004101 |
rs121913140
|
LP/P | - | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
1200_TRP | SER |
ClinVar chr19:7119574 |
rs121913140
|
Pathogenic | - | Insulin-resistant diabetes mellitus AND acanthosis nigricans [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297] | |
1203_THR | SER |
8.3kJPN chr19:7119565 |
-
|
- | 0.0001 | - | |
1224_GLU | TER |
ClinVar chr15:99491894 |
-
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
1226_GLY | SER |
8.3kJPN chr15:99491900 |
rs368518102
|
- | 0.0003 | - | |
1227_TYR | ASP |
8.3kJPN chr19:7119494 |
-
|
- | 0.0004 | - | |
1231_PRO | THR |
8.3kJPN chr15:99491915 |
rs751193576
|
- | 0.0001 | - | |
1243_ARG | HIS |
8.3kJPN chr19:7117407 |
rs746000108
|
- | 0.0004 | - | |
1255_THR | ALA | VAR_041433 |
rs55875349
|
LB/B | - | - | |
1267_MET | VAL |
8.3kJPN chr15:99500375 |
-
|
- | 0.0001 | - | |
1280_GLU | LYS |
gnomAD chr15:99500414 |
rs45526336
|
- | 0.000103407 | - | |
1280_GLU | LYS |
8.3kJPN chr15:99500414 |
rs45526336
|
- | 0.0001 | - |