[Term] id: PR:000037567 name: presenilin-1 sequence variant F105C (human) def: "A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:29950." [Alzforum:KD, PMID:24650794, PMID:24737487, PRO:DAN] comment: Category=organism-sequence. Requested by=Alzforum. synonym: "hPSEN1/var:F105C" EXACT PRO-short-label [PRO:DAN] synonym: "UniProtKB:P49768-1, Phe-105, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx] xref: Alzforum_mut:psen1-f105c is_a: PR:000036285 ! presenilin-1 sequence variant (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens