[Term]
id: PR:000064258
name: coagulation factor VIII sequence variant P2067L, signal peptide removed form (human)
def: "A coagulation factor VIII (human) that has a Leu residue at the position equivalent to Pro-2067 of the amino acid sequence represented by UniProtKB:P00451-1 and that has had the signal peptide removed. Example: UniProtKB:P00451-1, 20-2351, Pro-2067, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-9670229]
comment: Category=organism-modification.
synonym: "hF8/var:P2067L/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "F8 P2067L" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9670229]
synonym: "UniProtKB:P00451, 20-2351, Pro-2067, CHEBI:30006" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P00451-1, 20-2351, Pro-2067, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9670229 "PR:000064258 located_in GO:0005788"
is_a: PR:P00451 ! coagulation factor VIII (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens