neXtProt/NXQ_00048

Proteins with at least one variant of the type "C->X" (Cys to anything else) that are linked to one or more diseases

Use at

• https://sparql.nextprot.org/sparql

PREFIX : <http://nextprot.org/rdf/>
PREFIX nextprot_cv: <http://nextprot.org/rdf/terminology/>
PREFIX xsd: <http://www.w3.org/2001/XMLSchema#>

SELECT DISTINCT ?entry WHERE {
 {
	?entry :isoform ?iso.
	?iso :variant ?var.
	?var :disease ?_.
	?var :original "C"^^xsd:string.
 } UNION {
 ?entry :isoform ?iso .
	?iso :proteoform ?pf.
	?pf :difference ?var.
	?var :evidence / :negative false. # positive evidence
	?pf :diseaseRelatedVariant / :term nextprot_cv:ME_0000013 . # cause of disease
	?var :original "C"^^xsd:string.

 }
}

graph TD
classDef projected fill:lightgreen;
classDef literal fill:orange;
classDef iri fill:yellow;
  v4("?_")
  v1("?entry"):::projected 
  v2("?iso")
  v5("?pf")
  v3("?var")
  a1((" "))
  a2((" "))
  c5(["C"]):::literal 
  c10(["false^^xsd:boolean"]):::literal 
  c13([":terminology/ME_0000013"]):::iri 
  subgraph union0[" Union "]
  subgraph union0l[" "]
    style union0l fill:#abf,stroke-dasharray: 3 3;
    v1 --":isoform"-->  v2
    v2 --":proteoform"-->  v5
    v5 --":difference"-->  v3
    v3 --":evidence"-->  a1
    a1 --":negative"-->  c10
    v5 --":diseaseRelatedVariant"-->  a2
    a2 --":term"-->  c13
    v3 --":original"-->  c5
  end
  subgraph union0r[" "]
    style union0r fill:#abf,stroke-dasharray: 3 3;
    v1 --":isoform"-->  v2
    v2 --":variant"-->  v3
    v3 --":disease"-->  v4
    v3 --":original"-->  c5
  end
  union0r <== or ==> union0l
  end