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
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
3W11 (CHAIN: E)
1 4OGA   4OGA  

P01308  
2 Monomeric state
3 P05019  
4 5J3H   5J3H  
Downdload
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partners
  3
  2
  1
  0
Sequence information
1   HLYPGEVCPG   MDIRNNLTRL   HELENCSVIE   GHLQILLMFK   TRPEDFRDLS   50
51   FPKLIMITDY   LLLFRVYGLE   SLKDLFPNLT   VIRGSRLFFN   YALVIFEMVH   100
101   LKELGLYNLM   NITRGSVRIE   KNNELCYLAT   IDWSRILDSV   EDNHIVLNKD   150
151   DNEECGDICP   GTAKGKTNCP   ATVINGQFVE   RCWTHSHCQK   VCPTICKSHG   200
201   CTAEGLCCHS   ECLGNCSQPD   DPTKCVACRN   FYLDGRCVET   CPPPYYHFQD   250
251   WRCVNFSFCQ   DLHHKCKNSR   RQGCHQYVIH   NNKCIPECPS   GYTMNSSNLL   300
301   CTPCLGPCPK           350
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
15_ASN LYS ClinVar
chr19:7267882
rs121913143 Pathogenic Pineal hyperplasia AND diabetes mellitus syndrome [MedGen:C0271695,OMIM:262190,Orphanet:ORPHA769,SNOMED CT:33559001]
28_VAL ALA ClinVar
chr19:7267844
rs121913152 Pathogenic Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
29_ILE THR ClinVar
chr19:7267841
rs1555689937 Pathogenic Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
29_ILE THR VAR_079535 - 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]
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]
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]
193_PRO LEU VAR_004083 rs749094324 Polymorphism -
201_CYS ARG VAR_041429 - Unclassified A gastric adenocarcinoma sample
209_HIS ARG ClinVar
chr19:7184594
rs121913145 Pathogenic Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
229_ARG CYS VAR_079536 rs781007453 Disease Rabson-Mendenhall syndrome (RMS) [MIM:262190]
233_LEU PRO ClinVar
chr19:7184522
rs121913141 Pathogenic Leprechaunism syndrome [MedGen:C0265344,OMIM:246200,Orphanet:ORPHA508,SNOMED CT:111307005]
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]