[Term] id: PR:000037741 name: presenilin-2 sequence variant R29H (human) def: "A presenilin-2 sequence variant (human) that has a His residue at the position equivalent to Arg-29 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-29, CHEBI:29979." [PRO:DAN, Alzforum:KD, PMID:18667258] comment: Category=organism-sequence. Requested by=Alzforum. synonym: "hPSEN2/var:R29H" EXACT PRO-short-label [PRO:DAN] synonym: "UniProtKB:P49810, Arg-29, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DNx] synonym: "UniProtKB:P49810-1, Arg-29, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx] xref: Alzforum_mut:psen2-r29h is_a: PR:000036286 ! presenilin-2 sequence variant (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens