[Term]
id: PR:000028725
name: microtubule-associated protein tau sequence variant V300I (human)
def: "A microtubule-associated protein tau sequence variant (human) that has an Ile residue at the position equivalent to Val-300 of the amino acid sequence represented by UniProtKB:P10636-8 (Tau-F; aka Val-617 in PNS-Tau). Example: UniProtKB:P10636-8, Val-300, CHEBI:30009." [PRO:DAN, Alzforum:KD, PMID:20020531]
comment: Category=organism-sequence. Requested by=Alzforum. Note: The position of variation given for UniProtKB_VAR:VAR_064624 is with respect to PNS-Tau numbering.
synonym: "hMAPT/var:V300I" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P10636, Val-617, CHEBI:30009" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:P10636-1, Val-617, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P10636-8, Val-300, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_064624
xref: Alzforum_mut:mapt-v300i
is_a: PR:000028708 ! microtubule-associated protein tau sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens