PDB ID 1DS6 CHAIN A
Protein name RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2
Uniprot Accession P15153
The number of similar proteins 42
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:  
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partners
  >9
  8
  7
  6
  5
  4
  3
  2
  1
  0
Sequence information
1   MQAIKCVVVG   DGAVGKTCLL   ISYTTNAFPG   EYIPTVFDNY   SANVMVDSKP   50
51   VNLGLWDTAG   QEDYDRLRPL   SYPQTDVFLI   CFSLVSPASY   ENVRAKWFPE   100
101   VRHHCPSTPI   ILVGTKLDLR   DDKDTIEKLK   EKKLAPITYP   QGLALAKEID   150
151   SVKYLECSAL   TQRGLKTVFD   EAIRAVLCPQ   PTRQQKRACS   LL   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]
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]
29_PRO LEU VAR_036569 - Unclassified A breast cancer sample
39_ASN SER ClinVar
chr7:6431563
rs1554263624 Pathogenic MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 [MedGen:C4540321,OMIM: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]
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]
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]
64_TYR ASP ClinVar
chr7:6431637
rs1554263626 Pathogenic MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 [MedGen:C4540321,OMIM:617751]
157_CYS TYR ClinVar
chr7:6441968
rs1554264268 Likely pathogenic MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 [MedGen:C4540321,OMIM:617751]; not provided [MedGen:CN517202]