[Term]
id: PR:000064287
name: coagulation factor VIII sequence variant R2326Q, signal peptide removed form (human)
def: "A coagulation factor VIII (human) that has a Gln residue at the position equivalent to Arg-2326 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-2326, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-9661945]
comment: Category=organism-modification.
synonym: "hF8/var:R2326Q/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "F8 R2326Q" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9661945]
synonym: "UniProtKB:P00451, 20-2351, Arg-2326, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P00451-1, 20-2351, Arg-2326, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9661945 "PR:000064287 located_in GO:0005788"
is_a: PR:P00451 ! coagulation factor VIII (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens