[Term]
id: PR:000060520
name: coagulation factor VIII sequence variant D599H, signal peptide removed form (human)
def: "A coagulation factor VIII (human) that has a His residue at the position equivalent to Asp-599 of the amino acid sequence represented by UniProtKB:P00451-1 and that has had the signal peptide removed. Example: UniProtKB:P00451-1, 20-2351, Asp-599, CHEBI:29979." [PRO:DNx, Reactome:R-HSA-9662006]
comment: Category=organism-modification.
synonym: "hF8/var:D599H/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "F8 D599H" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9662006]
synonym: "UniProtKB:P00451, 20-2351, Asp-599, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P00451-1, 20-2351, Asp-599, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9662006 "PR:000060520 located_in GO:0005788"
is_a: PR:P00451 ! coagulation factor VIII (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens