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)		 AlphaMissense
pathogenicity		 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

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.