[Term] id: PR:000037584 name: presenilin-1 sequence variant N135D (human) def: "A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Asn-135 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-135, CHEBI:29958." [Alzforum:KD, PMID:9225696, PRO:DAN] comment: Category=organism-sequence. Requested by=Alzforum. synonym: "hPSEN1/var:N135D" EXACT PRO-short-label [PRO:DAN] synonym: "UniProtKB:P49768-1, Asn-135, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx] xref: UniProtKB_VAR:VAR_010121 xref: Alzforum_mut:psen1-n135d is_a: PR:000036285 ! presenilin-1 sequence variant (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens