[Term]
id: PR:000062330
name: coagulation factor IX sequence variant R294Q, signal peptide removed form (human)
def: "A coagulation factor IX (human) that has a Gln residue at the position equivalent to Arg-294 of the amino acid sequence represented by UniProtKB:P00740-1 and that has had the signal peptide removed. Example: UniProtKB:P00740-1, 29-461, Arg-294, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-9672886]
comment: Category=organism-modification.
synonym: "hF9/var:R294Q/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "F9(29-461) R294Q" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9672886]
synonym: "UniProtKB:P00740, 29-461, Arg-294, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P00740-1, 29-461, Arg-294, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9672886 "PR:000062330 located_in GO:0005788"
is_a: PR:P00740 ! coagulation factor IX (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens