PDB ID | 3W11
|
CHAIN | E |
---|---|---|---|
Protein name | Insulin receptor domains L1-CR | ||
Uniprot Accession | P06213 | ||
The number of similar proteins | 10 | ||
The number of binding states | 4 | ||
The number of binding partners | 3 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3W11 (CHAIN: E) | |
1 |
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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) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
15_ASN | LYS |
VAR_004079
rs121913143 |
LP/P | - | 0.9737 | Rabson-Mendenhall syndrome (RMS) [MIM:262190] | |
15_ASN | LYS |
ClinVar chr19:7267882 rs121913143 |
Pathogenic | - | 0.9737 | Rabson-Mendenhall syndrome [MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769] | |
24_GLU | LYS |
gnomAD chr19:7267857 rs140852238 |
- | 0.000453677 | 0.1027 | - | |
28_VAL | ALA |
VAR_004080
rs121913152 |
LP/P | - | 0.8064 | Leprechaunism (LEPRCH) [MIM:246200] | |
28_VAL | ALA |
ClinVar chr19:7267844 rs121913152 |
Pathogenic | - | 0.8064 | Leprechaunism syndrome [MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508] | |
29_ILE | THR |
VAR_079535
rs1555689937 |
LP/P | - | 0.9153 | Leprechaunism (LEPRCH) [MIM:246200] | |
31_GLY | ARG |
VAR_004081
rs52836744 |
LP/P | - | 0.9954 | Leprechaunism (LEPRCH) [MIM:246200] | |
31_GLY | ARG |
ClinVar chr19:7267836 rs52836744 |
Pathogenic | - | 0.9954 | Leprechaunism syndrome [MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508] | |
59_ASP | GLY |
VAR_015907
- |
LP/P | - | 0.6861 | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
62_LEU | PRO |
VAR_015908
- |
LP/P | - | 0.9992 | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
65_ARG | TRP |
8.3kJPN chr19:7267734 - |
- | 0.0001 | 0.9719 | - | |
86_ARG | PRO |
VAR_004082
rs121913153 |
LP/P | - | 0.9179 | Leprechaunism (LEPRCH) [MIM:246200] | |
86_ARG | PRO |
ClinVar chr19:7267670 rs121913153 |
Pathogenic | - | 0.9179 | Leprechaunism syndrome [MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508] | |
92_ALA | VAL |
VAR_015909
rs1347473020 |
LP/P | - | 0.9815 | Leprechaunism (LEPRCH) [MIM:246200] | |
93_LEU | GLN |
VAR_031518
- |
LP/P | - | 0.9948 | Leprechaunism (LEPRCH) [MIM:246200] | |
105_GLY | SER |
ClinVar chr19:7267614 rs886037750 |
Pathogenic | - | 0.5883 | Rabson-Mendenhall syndrome [MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769] | |
118_ARG | SER |
8.3kJPN chr19:7267575 - |
- | 0.0002 | 0.9978 | - | |
119_ILE | MET |
VAR_015539
rs121913159 |
LP/P | - | 0.2029 | Leprechaunism (LEPRCH) [MIM:246200] | |
119_ILE | MET |
ClinVar chr19:7267570 rs121913159 |
Pathogenic | - | 0.2029 | Leprechaunism syndrome [MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508] | |
121_LYS | TER |
ClinVar chr19:7267566 rs121913155 |
Pathogenic | - | - | Leprechaunism syndrome [MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508] | |
133_TRP | TER |
ClinVar chr19:7267529 rs121913146 |
Pathogenic | - | - | Insulin-resistant diabetes mellitus AND acanthosis nigricans [MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297] | |
140_VAL | LEU |
VAR_015910
rs938519025 |
LP/P | - | 0.3868 | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
152_ASN | ASP |
8.3kJPN chr19:7267473 - |
- | 0.0001 | 0.089 | - | |
171_ALA | THR |
8.3kJPN chr19:7267416 - |
- | 0.0001 | 0.103 | - | |
176_GLY | ARG |
gnomAD chr19:7267401 rs545565240 |
- | 0.000178959 | 0.3363 | - | |
184_THR | ILE |
ClinVar chr19:7267376 rs1967766760 |
Pathogenic | - | 0.933 | Leprechaunism syndrome [MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508] | |
193_PRO | LEU |
VAR_004083
rs749094324 |
LB/B | - | 0.4885 | - | |
201_CYS | ARG |
VAR_041429
- |
US | - | 0.9973 | A gastric adenocarcinoma sample | |
209_HIS | ARG |
VAR_004084
rs121913145 |
LP/P | - | 0.9365 | Leprechaunism (LEPRCH) [MIM:246200] | |
209_HIS | ARG |
ClinVar chr19:7184594 rs121913145 |
Pathogenic | - | 0.9365 | Leprechaunism syndrome [MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508] | |
211_GLU | LYS |
ClinVar chr19:7184589 - |
Likely pathogenic | - | 0.6601 | not provided [MedGen:C3661900] | |
213_LEU | PRO |
8.3kJPN chr19:7184582 - |
- | 0.0001 | 0.9972 | - | |
224_LYS | ASN |
8.3kJPN chr19:7184548 - |
- | 0.0001 | 0.3929 | - | |
229_ARG | CYS |
VAR_079536
rs781007453 |
LP/P | - | 0.8155 | Rabson-Mendenhall syndrome (RMS) [MIM:262190] | |
229_ARG | CYS |
8.3kJPN chr19:7184535 rs781007453 |
- | 0.0001 | 0.8155 | - | |
233_LEU | PRO |
VAR_004085
rs121913141 |
LP/P | - | 0.9492 | Leprechaunism (LEPRCH) [MIM:246200] | |
233_LEU | PRO |
ClinVar chr19:7184522 rs121913141 |
Pathogenic | - | 0.9492 | Leprechaunism syndrome [MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508] | |
242_PRO | LEU |
8.3kJPN chr19:7184495 rs1448475843 |
- | 0.0001 | 0.292 | - | |
244_PRO | LEU |
8.3kJPN chr19:7184489 rs200199169 |
- | 0.0001 | 0.1475 | - | |
244_PRO | SER |
8.3kJPN chr19:7184490 rs537134904 |
- | 0.0001 | 0.0893 | - | |
252_ARG | CYS |
VAR_015540
rs1568470274 |
LP/P | - | 0.9676 | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
252_ARG | HIS |
VAR_031519
rs1329693158 |
LP/P | - | 0.4125 | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
253_CYS | TYR |
VAR_015911
- |
LP/P | - | 0.9987 | Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] | |
259_CYS | TYR |
VAR_079537
- |
LP/P | - | 0.999 | Leprechaunism (LEPRCH) [MIM:246200] | |
259_CYS | SER |
8.3kJPN chr19:7184444 - |
- | 0.0001 | 0.9997 | - | |
293_THR | MET |
gnomAD chr19:7184342 rs138528064 |
- | 0.000203087 | 0.0877 | - | |
299_LEU | PHE |
8.3kJPN chr19:7174739 - |
- | 0.0001 | 0.4786 | - | |
307_PRO | LEU |
8.3kJPN chr19:7174716 rs373995681 |
- | 0.0001 | 0.0838 | - |