[Term]
id: PR:000063401
name: neurofibromin sequence variant S1053*, initiator methionine removed form (human)
def: "A neurofibromin (human) that has has been truncated after the position equivalent to Thr-1052 of the amino acid sequence represented by UniProtKB:P21359-1 and that has had the initiator methionine removed. Example: UniProtKB:P21359-1, 2-1052." [PRO:DNx, Reactome:R-HSA-9647502]
comment: Category=organism-modification.
synonym: "hNF1/var:S1053*/InitMet-" EXACT PRO-short-label [PRO:DNx]
synonym: "NF1 S1053*" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9647502]
synonym: "UniProtKB:P21359, 2-1052" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P21359-1, 2-1052" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-9647502 "PR:000063401 located_in GO:0005829"
is_a: PR:P21359 ! neurofibromin (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens