[Term]
id: PR:000062526
name: coagulation factor IX sequence variant R43L, signal peptide removed hydroxylated 1 (human)
def: "A coagulation factor IX (human) that has a Leu residue at the position equivalent to Arg-43 of the amino acid sequence represented by UniProtKB:P00740-1, that has had the signal peptide removed, and that has been hydroxylated on the residue at the position equivalent to Asp-110. Example: UniProtKB:P00740-1, 29-461, Arg-43, CHEBI:30006|Asp-110, MOD:00036." [PRO:DNx, Reactome:R-HSA-9673207]
comment: Category=organism-modification.
synonym: "hF9/var:R43L/SigPep-/Hy:1" EXACT PRO-short-label [PRO:DNx]
synonym: "3OHD110-F9(29-461) N43L" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9673207]
synonym: "UniProtKB:P00740, 29-461, Arg-43, CHEBI:30006|Asp-110, MOD:00036" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P00740-1, 29-461, Arg-43, CHEBI:30006|Asp-110, MOD:00036" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9673207 "PR:000062526 located_in GO:0005788"
is_a: PR:P00740 ! coagulation factor IX (human)
relationship: has_part MOD:00036 ! (2S,3R)-3-hydroxyaspartic acid
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens