[Term]
id: PR:000060326
name: glutamate--cysteine ligase catalytic subunit sequence variant R127C (human)
def: "A glutamate--cysteine ligase catalytic subunit (human) that has a Cys residue at the position equivalent to Arg-127 of the amino acid sequence represented by UniProtKB:P48506. UniProtKB:P48506, Arg-127, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-5602822]
comment: Category=organism-sequence.
synonym: "hGCLC/var:R127C" EXACT PRO-short-label [PRO:DNx]
synonym: "GCLC R127C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-5602822]
synonym: "UniProtKB:P48506, Arg-127, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-5602822 "PR:000060326 located_in GO:0005829"
is_a: PR:P48506 ! glutamate--cysteine ligase catalytic subunit (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens