PDB ID 1AQB     CHAIN A
Protein name RETINOL-BINDING PROTEIN
Uniprot Accession P27485
The number of similar proteins 39
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
1AQB (CHAIN: A)
1 Monomeric state
2 P61991  
3 P02766   P02766   P02766  
4 P02766   P02766   P02766   3BSZ   3BSZ  

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Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   ERDCRVSSFR   VKENFDKARF   SGTWYAMAKK   DPEGLFLQDN   IVAEFSVDEN   50
51   GHMSATAKGR   VRLLNNWDVC   ADMVGTFTDT   EDPAKFKMKY   WGVASFLQKG   100
101   NDDHWIIDTD   YDTYAVQYSC   RLQNLDGTCA   DSYSFVFARD   PHGFSPEVQK   150
151   IVRQRQEELC   LARQYRIITH   NGYCDGKSER   NIL     200

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
5_ARG TER ClinVar
chr10:95360719 		rs1259782555
Pathogenic - not provided [MedGen:C3661900]
25_TYR TER ClinVar
chr10:95360543 		rs1589687052
Pathogenic - not provided [MedGen:C3661900]
48_ASP GLU 8.3kJPN
chr10:95360474 		-
- 0.0001 -
48_ASP ALA 8.3kJPN
chr10:95360475 		-
- 0.0001 -
55_ALA THR ClinVar
chr10:95360455 		rs794726862
Pathogenic - Microphthalmia, isolated, with coloboma 10|Bilateral microphthalmos [MONDO:MONDO:0014635,MedGen:C4225330,OMIM:616428,Orphanet:98938|Human Phenotype Ontology:HP:0001143,Human Phenotype Ontology:HP:0001585,Human Phenotype Ontology:HP:0007633,MedGen:C1843496]
55_ALA VAL ClinVar
chr10:95360454 		-
Likely pathogenic - Anophthalmia [Human Phenotype Ontology:HP:0000528,Human Phenotype Ontology:HP:0001485,Human Phenotype Ontology:HP:0007664,MedGen:C0003119]
57_ALA THR ClinVar
chr10:95360449 		rs794726861
Likely pathogenic - Microphthalmia, isolated, with coloboma 10|Inborn genetic diseases [MONDO:MONDO:0014635,MedGen:C4225330,OMIM:616428,Orphanet:98938|MeSH:D030342,MedGen:C0950123]
68_ASP VAL 8.3kJPN
chr10:95360248 		rs1340137234
- 0.0001 -
73_MET VAL ClinVar
chr10:95360234 		-
Likely pathogenic - Microphthalmia [Human Phenotype Ontology:HP:0000568,Human Phenotype Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010]
75_GLY ASP ClinVar
chr10:95360227 		rs121918585
Likely pathogenic - Progressive retinal dystrophy due to retinol transport defect [MONDO:MONDO:0014060,MedGen:C3554593,OMIM:615147,Orphanet:352718]
100_GLY GLU ClinVar
chr10:95360152 		rs1554887443
Likely pathogenic - not provided [MedGen:C3661900]
102_ASP TYR ClinVar
chr10:95353790 		-
Likely pathogenic - Bilateral microphthalmos [Human Phenotype Ontology:HP:0001143,Human Phenotype Ontology:HP:0001585,Human Phenotype Ontology:HP:0007633,MedGen:C1843496]
102_ASP HIS ClinVar
chr10:95353790 		-
Likely pathogenic - Congenital ocular coloboma [Human Phenotype Ontology:HP:0000589,Human Phenotype Ontology:HP:0007767,Human Phenotype Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194]
110_ASP GLY ClinVar
chr10:95353765 		-
Likely pathogenic - Anterior segment dysgenesis [Human Phenotype Ontology:HP:0007696,Human Phenotype Ontology:HP:0007699,Human Phenotype Ontology:HP:0007700,Human Phenotype Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632]
113_THR MET 8.3kJPN
chr10:95353756 		rs577540732
- 0.001 -
114_TYR ASN ClinVar
chr10:95353754 		rs1329285216
Likely pathogenic - Congenital ocular coloboma [Human Phenotype Ontology:HP:0000589,Human Phenotype Ontology:HP:0007767,Human Phenotype Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194]; Microphthalmia|Unilateral microphthalmos [Human Phenotype Ontology:HP:0000568,Human Phenotype Ontology:HP:0007996,MONDO:MONDO:0021129,MedGen:C0026010|Human Phenotype Ontology:HP:0011480,MedGen:C3640024]
116_VAL MET 8.3kJPN
chr10:95353748 		rs557609728
- 0.0001 -
140_ASP GLU 8.3kJPN
chr10:95353674 		rs762114740
- 0.0001 -
140_ASP VAL 8.3kJPN
chr10:95353675 		-
- 0.0001 -
140_ASP TYR 8.3kJPN
chr10:95353676 		rs765499399
- 0.0001 -
151_ILE VAL gnomAD
chr10:95353643 		rs766167167
- 0.000131293 -
155_ARG GLN 8.3kJPN
chr10:95353630 		rs760604288
- 0.0001 -
158_GLU TER ClinVar
chr10:95353622 		rs2058283703
Pathogenic - Progressive retinal dystrophy due to retinol transport defect [MONDO:MONDO:0014060,MedGen:C3554593,OMIM:615147,Orphanet:352718]
158_GLU ASP gnomAD
chr10:95353620 		rs150540008
- 0.000286706 -
163_ARG LYS 8.3kJPN
chr10:95353606 		-
- 0.0001 -
164_GLN LYS gnomAD
chr10:95353604 		rs116887052
- 0.000597833 -
169_VAL ILE gnomAD
chr10:95353589 		rs779604024
- 0.000103721 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

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