PDB ID 2BOV     CHAIN A
Protein name RAS-RELATED PROTEIN RAL-A
Uniprot Accession P11233
The number of similar proteins 18
The number of binding states 4
The number of binding partners 3

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2BOV (CHAIN: A)
1 P15879  
2 Monomeric state
3 O54921  
4 O54924  

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Molecule viewer


Only interaction residues
#binding
partners
  2
  1
  0

Sequence information

1   MAANKPKGQN   SLALHKVIMV   GSGGVGKSAL   TLQFMYDEFV   EDYEPTKADS   50
51   YRKKVVLDGE   EVQIDILDTA   GQEDYAAIRD   NYFRSGEGFL   CVFSITEMES   100
101   FAATADFREQ   ILRVKEDENV   PFLLVGNKSD   LEDKRQVSVE   EAKNRAEQWN   150
151   VNYVETSAKT   RANVDKVFFD   LMREIRARKM   EDSKEKNGKK   KRKSLAKRIR   200
201   ERCCIL           250

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
16_LYS GLU ClinVar
chr7:39726312 		-
Likely pathogenic - Hiatt-Neu-Cooper neurodevelopmental syndrome [MONDO:MONDO:0859142,MedGen:C5543338,OMIM:619311]
23_GLY ALA ClinVar
chr7:39726334 		-
Likely pathogenic - Hiatt-Neu-Cooper neurodevelopmental syndrome [MONDO:MONDO:0859142,MedGen:C5543338,OMIM:619311]
25_VAL LEU VAR_085759 -
LP/P - Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311]
25_VAL MET VAR_085760 rs1554297905
LP/P - Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311]
25_VAL MET ClinVar
chr7:39726339 		rs1554297905
Pathogenic/Likely pathogenic - Inborn genetic diseases|not provided|Hiatt-Neu-Cooper neurodevelopmental syndrome|Intellectual disability [MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0859142,MedGen:C5543338,OMIM:619311|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:HP:0002192,Human Phenotype Ontology:HP:0002316,Human Phenotype Ontology:HP:0002382,Human Phenotype Ontology:HP:0002386,Human Phenotype Ontology:HP:0002402,Human Phenotype Ontology:HP:0002458,Human Phenotype Ontology:HP:0002482,Human Phenotype Ontology:HP:0002499,Human Phenotype Ontology:HP:0002543,Human Phenotype Ontology:HP:0003767,Human Phenotype Ontology:HP:0006833,Human Phenotype Ontology:HP:0007154,Human Phenotype Ontology:HP:0007176,Human Phenotype Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756]
25_VAL LEU ClinVar
chr7:39726339 		rs1554297905
Pathogenic - Hiatt-Neu-Cooper neurodevelopmental syndrome [MONDO:MONDO:0859142,MedGen:C5543338,OMIM:619311]
80_ASP GLY 8.3kJPN
chr2:121043574 		-
- 0.0001 -
109_GLU GLN 8.3kJPN
chr2:121047157 		-
- 0.0001 -
128_LYS ARG VAR_085761 -
LP/P - Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311]
128_LYS ARG ClinVar
chr7:39736343 		rs2116098601
Likely pathogenic - not provided [MedGen:C3661900]
130_ASP GLY VAR_085762 -
LP/P - Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311]
130_ASP GLU ClinVar
chr7:39736350 		rs1792929407
Likely pathogenic - not provided [MedGen:C3661900]
130_ASP GLY ClinVar
chr7:39736349 		rs2116098628
Pathogenic - Hiatt-Neu-Cooper neurodevelopmental syndrome [MONDO:MONDO:0859142,MedGen:C5543338,OMIM:619311]
134_ARG GLN 8.3kJPN
chr2:121047236 		rs141928830
- 0.0001 -
148_GLN GLU 8.3kJPN
chr7:39736402 		-
- 0.0001 -
150_GLY VAL 8.3kJPN
chr2:121047284 		-
- 0.0001 -
154_VAL MET 8.3kJPN
chr2:121047295 		rs1436686867
- 0.0001 -
156_THR ILE ClinVar
chr7:39736427 		-
Likely pathogenic - not provided [MedGen:CN517202]
157_SER ALA VAR_085763 -
LP/P - Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311]
157_SER ALA ClinVar
chr7:39736429 		rs2116098885
Pathogenic - Hiatt-Neu-Cooper neurodevelopmental syndrome [MONDO:MONDO:0859142,MedGen:C5543338,OMIM:619311]
157_SER PHE ClinVar
chr7:39736430 		rs2116098893
Pathogenic - Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
158_ALA THR ClinVar
chr7:39736432 		-
Likely pathogenic - Hiatt-Neu-Cooper neurodevelopmental syndrome [MONDO:MONDO:0859142,MedGen:C5543338,OMIM:619311]
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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.