[Term] id: PR:000037644 name: presenilin-1 sequence variant L219F (human) def: "A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:29997." [Alzforum:KD, PRO:DAN] comment: Category=organism-sequence. Requested by=Alzforum. synonym: "hPSEN1/var:L219F" EXACT PRO-short-label [PRO:DAN] synonym: "UniProtKB:P49768-1, Leu-219, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx] xref: Alzforum_mut:psen1-l219f is_a: PR:000036285 ! presenilin-1 sequence variant (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens