[Term]
id: PR:000062786
name: neurofibromin sequence variant L1187I, initiator methionine removed form (human)
def: "A neurofibromin (human) that has an Ile residue at the position equivalent to Leu-1187 of the amino acid sequence represented by UniProtKB:P21359-1 and that has had the initiator methionine removed. Example: UniProtKB:P21359-1, 2-2839, Leu-1187, CHEBI:30009." [PRO:DNx, Reactome:R-HSA-6802417]
comment: Category=organism-modification.
synonym: "hNF1/var:L1187I/InitMet-" EXACT PRO-short-label [PRO:DNx]
synonym: "NF1 L1187I" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-6802417]
synonym: "UniProtKB:P21359, 2-2839, Leu-1187, CHEBI:30009" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P21359-1, 2-2839, Leu-1187, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-6802417 "PR:000062786 located_in GO:0005829"
is_a: PR:P21359 ! neurofibromin (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens