[Term]
id: PR:000037533
name: microtubule-associated protein tau sequence variant N296H (human)
def: "A microtubule-associated protein tau sequence variant (human) that has a His residue at the position equivalent to Asn-296 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Asn-613 in PNS-Tau). Example: UniProtKB:P10636-8, Asn-296, CHEBI:29979." [PRO:DAN, Alzforum:KD, PMID:11585254]
comment: Category=organism-sequence. Requested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_019663 is with respect to PNS-Tau numbering.
synonym: "hMAPT/var:N296H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P10636, Asn-613, CHEBI:29979" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-1, Asn-613, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-8, Asn-296, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_019663
xref: Alzforum_mut:mapt-n296h
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens