[Term]
id: PR:000063058
name: coagulation factor VIII sequence variant E1057K, signal peptide removed form (human)
def: "A coagulation factor VIII (human) that has a Lys residue at the position equivalent to Glu-1057 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-1057, CHEBI:29967." [PRO:DNx, Reactome:R-HSA-9662694]
comment: Category=organism-modification.
synonym: "hF8/var:E1057K/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "F8 E1057K" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9662694]
synonym: "UniProtKB:P00451, 20-2351, Glu-1057, CHEBI:29967" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P00451-1, 20-2351, Glu-1057, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9662694 "PR:000063058 located_in GO:0005788"
is_a: PR:P00451 ! coagulation factor VIII (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens