[Term]
id: PR:000063955
name: N-acetylgalactosamine-6-sulfatase sequence variant R386C, signal peptide removed form (human)
def: "An N-acetylgalactosamine-6-sulfatase (human) that has a Cys residue at the position equivalent to Arg-386 of the amino acid sequence represented by UniProtKB:P34059 and that has had the signal peptide removed. UniProtKB:P34059, 27-522, Arg-386, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-2245326]
comment: Category=organism-modification.
synonym: "hGALNS/var:R386C/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "GALNS R386C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-2245326]
synonym: "UniProtKB:P34059, 27-522, Arg-386, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-2245326 "PR:000063955 located_in GO:0043202"
is_a: PR:P34059 ! N-acetylgalactosamine-6-sulfatase (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens