[Term]
id: PR:000060668
name: coagulation factor VIII sequence variant R612C, signal peptide removed form (human)
def: "A coagulation factor VIII (human) that has a Cys residue at the position equivalent to Arg-612 of the amino acid sequence represented by UniProtKB:P00451-1 and that has had the signal peptide removed. Example: UniProtKB:P00451-1, 20-2351, Arg-612, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-9662023]
comment: Category=organism-modification.
synonym: "hF8/var:R612C/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "F8 R612C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9662023]
synonym: "UniProtKB:P00451, 20-2351, Arg-612, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P00451-1, 20-2351, Arg-612, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9662023 "PR:000060668 located_in GO:0005788"
is_a: PR:P00451 ! coagulation factor VIII (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens