[Term]
id: PR:000061644
name: neurofibromin sequence variant R440Q, initiator methionine removed form (human)
def: "A neurofibromin (human) that has a Gln residue at the position equivalent to Arg-440 of the amino acid sequence represented by UniProtKB:P21359-1 and that has had the initiator methionine removed. Example: UniProtKB:P21359-1, 2-2839, Arg-440, CHEBI:30011." [PRO:DNx, Reactome:R-HSA-9647508]
comment: Category=organism-modification.
synonym: "hNF1/var:R440Q/InitMet-" EXACT PRO-short-label [PRO:DNx]
synonym: "NF1 R440Q" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9647508]
synonym: "UniProtKB:P21359, 2-2839, Arg-440, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P21359-1, 2-2839, Arg-440, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9647508 "PR:000061644 located_in GO:0005829"
is_a: PR:P21359 ! neurofibromin (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens