[Term]
id: PR:000067072
name: laforin isoforms 1/2/4/5/6/7/8 sequence variant T194I (human)
def: "A laforin isoforms 1/2/4/5/6/7/8 (human) that has an Ile residue at the position equivalent to Thr-194 of the amino acid sequence represented by UniProtKB:O95278-1. Example: UniProtKB:O95278-1, Thr-194, CHEBI:30009." [PRO:DNx, Reactome:R-HSA-3791361]
comment: Category=organism-sequence.
synonym: "hEPM2A/iso:[1/2/4/5/6/7/8]/var:T194I" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O95278, Thr-194, CHEBI:30009" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:O95278-1, Thr-194, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
synonym: "EPM2A T194I" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3791361]
xref: Reactome:R-HSA-3791361 "PR:000067072 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