[Term]
id: PR:000044554
name: presenilin-1 sequence variant H214N (human)
def: "A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:50347." [PRO:DAN, Alzforum:KD]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:H214N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768, His-214, CHEBI:50347" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49768-1, His-214, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-h214n
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens