[Term]
id: PR:000063060
name: coagulation factor VIII sequence variant E600Q, signal peptide removed form (human)
def: "A coagulation factor VIII (human) that has a Gln residue at the position equivalent to Glu-600 of the amino acid sequence represented by UniProtKB:P00451-1 and that has had the signal peptide removed. Example: UniProtKB:P00451-1, 20-2351, Glu-600, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-9662015]
comment: Category=organism-modification.
synonym: "hF8/var:E600Q/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "F8 E600Q" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9662015]
synonym: "UniProtKB:P00451, 20-2351, Glu-600, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P00451-1, 20-2351, Glu-600, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9662015 "PR:000063060 located_in GO:0005788"
is_a: PR:P00451 ! coagulation factor VIII (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens