PDB ID 1FOE CHAIN B
Protein name RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE
Uniprot Accession P63000
The number of similar proteins 45
The number of binding states 16
The number of binding partners 15
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
Downdload
 Format:  
Molecule viewer
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partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0
Sequence information
1   MQAIKCVVVG   DGAVGKTCLL   ISYTTNAFPG   EYIPTVFDNY   SANVMVDGKP   50
51   VNLGLWDTAG   QEDYDRLRPL   SYPQTDVFLI   CFSLVSPASF   ENVRAKWYPE   100
101   VRHHCPNTPI   ILVGTKLDLR   DDKDTIEKLK   EKKLTPITYP   QGLAMAKEIG   150
151   AVKYLECSAL   TQRGLKTVFD   EAIRAVL       200
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
18_CYS TYR ClinVar
chr7:6426860
rs1554263326 Pathogenic MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 [MedGen:C4540321,OMIM:617751]
18_CYS TYR VAR_080454 - Disease Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
26_ASN ASP VAR_014540 rs5830 Polymorphism -
28_PHE LEU VAR_014541 rs5832 Polymorphism -
29_PRO SER ClinVar
chr7:6426892
rs1057519874 Likely pathogenic Cutaneous melanoma [Human Phenotype Ontology:HP:0012056,MeSH:D008545,MedGen:C0025202]; Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]
29_PRO LEU ClinVar
chr7:6426893
rs1057519948 Likely pathogenic Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]
29_PRO THR ClinVar
chr7:6426892
rs1057519874 Likely pathogenic Malignant melanoma of skin [MeSH:C562393,MedGen:C0151779,SNOMED CT:93655004]; Malignant neoplasm of body of uterus [MedGen:C0153574,Orphanet:ORPHA213569]; Squamous cell carcinoma of the head and neck [MeSH:C535575,MedGen:C1168401,OMIM:275355,Orphanet:ORPHA67037]; Squamous cell carcinoma of the skin [Human Phenotype Ontology:HP:0006739,MedGen:C0553723]
39_ASN SER ClinVar
chr7:6431563
rs1554263624 Pathogenic MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 [MedGen:C4540321,OMIM:617751]
39_ASN SER VAR_080455 - Disease Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
51_VAL MET ClinVar
chr7:6431598
rs1554263625 Pathogenic MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 [MedGen:C4540321,OMIM:617751]
51_VAL LEU ClinVar
chr7:6431598
rs1554263625 Pathogenic MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 [MedGen:C4540321,OMIM:617751]
51_VAL LEU VAR_080456 - Unclassified Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
51_VAL MET VAR_080457 - Disease Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
57_ASP ASN ClinVar
chr22:37628897
rs74315507 Pathogenic Neutrophil immunodeficiency syndrome [MedGen:C1842398,OMIM:608203,Orphanet:ORPHA183707]
59_ALA GLY ClinVar
chr17:79990655
rs1379395211 Likely pathogenic Distal shortening of limbs [Human Phenotype Ontology:HP:0006402,MedGen:C1840307]
59_ALA THR VAR_014542 rs5837 Polymorphism -
62_GLU LYS ClinVar
chr22:37628882
rs1555908409 Pathogenic/Likely pathogenic Abnormality of T cell physiology [Human Phenotype Ontology:HP:0011840,MedGen:C4023166]; Abnormality of cellular immune system [Human Phenotype Ontology:HP:0010987,MedGen:C4023612]; Combined immunodeficiency [Human Phenotype Ontology:HP:0005387,MedGen:C0494261]; Immunodeficiency [Human Phenotype Ontology:HP:0002721,MedGen:C0021051]; Lymphopenia [Human Phenotype Ontology:HP:0001888,MedGen:C0024312]; Neutrophil immunodeficiency syndrome [MedGen:C1842398,OMIM:608203,Orphanet:ORPHA183707]; Severe combined immunodeficiency disease [Human Phenotype Ontology:HP:0004430,MeSH:D016511,MedGen:C0085110,Orphanet:ORPHA183660,SNOMED CT:31323000]
63_ASP GLY VAR_014543 rs5831 Polymorphism -
64_TYR ASP ClinVar
chr7:6431637
rs1554263626 Pathogenic MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 [MedGen:C4540321,OMIM:617751]
64_TYR ASP VAR_080458 - Disease Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
73_PRO LEU VAR_080459 - Disease Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
93_VAL ILE VAR_014544 rs5825 Polymorphism -
93_VAL GLY VAR_014545 rs5826 Polymorphism -
108_THR ILE VAR_014546 rs5838 Polymorphism -
130_LYS ARG VAR_014547 rs5828 Polymorphism -
133_LYS GLU VAR_014548 rs5835 Polymorphism -
135_THR ILE VAR_033303 rs11540455 Polymorphism -
157_CYS TYR ClinVar
chr7:6441968
rs1554264268 Likely pathogenic MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 [MedGen:C4540321,OMIM:617751]; not provided [MedGen:CN517202]
157_CYS TYR VAR_080460 - Disease Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]