[Term]
id: PR:000060926
name: neurofibromin sequence variant F1464L (human)
def: "A neurofibromin (human) that has a Leu residue at the position equivalent to Phe-1464 of the amino acid sequence represented by UniProtKB:P21359-1. Example: UniProtKB:P21359-1, Phe-1464, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-6802410]
comment: Category=organism-sequence.
synonym: "hNF1/var:F1464L" EXACT PRO-short-label [PRO:DNx]
synonym: "NF1 F1464L" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-6802410]
synonym: "UniProtKB:P21359, Phe-1464, CHEBI:30006" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P21359-1, Phe-1464, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-6802410 "PR:000060926 located_in GO:0005829"
is_a: PR:P21359 ! neurofibromin (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens