[Term]
id: PR:000067040
name: laforin isoforms 1/2/4/5/6/7/8 sequence variant P301L (human)
def: "A laforin isoforms 1/2/4/5/6/7/8 (human) that has a Leu residue at the position equivalent to Pro-301 of the amino acid sequence represented by UniProtKB:O95278-1. Example: UniProtKB:O95278-1, Pro-301, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-3791357]
comment: Category=organism-sequence.
synonym: "hEPM2A/iso:[1/2/4/5/6/7/8]/var:P301L" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O95278, Pro-301, CHEBI:30006" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:O95278-1, Pro-301, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
synonym: "EPM2A P301L" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3791357]
xref: Reactome:R-HSA-3791357 "PR:000067040 located_in GO:0005829"
is_a: PR:O95278 ! laforin isoforms 1/2/4/5/6/7/8 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens