[Term]
id: PR:000037556
name: presenilin-1 sequence variant D40del (human)
def: "A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Asp-40 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-39, 41-467." [PRO:DAN, Alzforum:KD, PMID:24463146]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:D40del" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768, 1-39, 41-467" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P49768-1, 1-39, 41-467" NARROW PRO-proteoform-std [PRO:DAN]
xref: Alzforum_mut:psen1-d40del-delacg
xref: Alzforum_mut:psen1-d40del-delgac
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens