[Term]
id: PR:000037565
name: presenilin-1 sequence variant F105I (human)
def: "A presenilin-1 sequence variant (human) that has an Ile 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:30009." [Alzforum:KD, PMID:16033913, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:F105I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Phe-105, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-f105i
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens