[Term]
id: PR:000045461
name: presenilin-1 sequence variant L219R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg 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:29952." [PRO:DAN, Alzforum:KD, PMID:23638752]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:L219R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768, Leu-219, CHEBI:29952" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49768-1, Leu-219, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-l219r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens