[Term]
id: PR:000060322
name: neurofibromin sequence variant R440*, initiator methionine removed form (human)
def: "A neurofibromin (human) that has has been truncated after the position equivalent to Leu-439 of the amino acid sequence represented by UniProtKB:P21359-1 and that has had the initiator methionine removed. Example: UniProtKB:P21359-1, 2-439." [PRO:DNx, Reactome:R-HSA-9647511]
comment: Category=organism-modification.
synonym: "hNF1/var:R440*/InitMet-" EXACT PRO-short-label [PRO:DNx]
synonym: "NF1 R440*" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9647511]
synonym: "UniProtKB:P21359, 2-439" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P21359-1, 2-439" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9647511 "PR:000060322 located_in GO:0005829"
is_a: PR:P21359 ! neurofibromin (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens