[Term]
id: PR:000062327
name: cobalamin trafficking protein CblD sequence variant Y249C, transit peptide removed form (human)
def: "A cobalamin trafficking protein CblD (human) that has a Cys residue at the position equivalent to Tyr-249 of the amino acid sequence represented by UniProtKB:Q9H3L0 and that has had the transit peptide removed. UniProtKB:Q9H3L0, 39-296, Tyr-249, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-3318584]
comment: Category=organism-modification.
synonym: "hMMADHC/var:Y249C/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "MMADHC Y249C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3318584]
synonym: "UniProtKB:Q9H3L0, 39-296, Tyr-249, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3318584 "PR:000062327 located_in GO:0005829"
is_a: PR:Q9H3L0 ! cobalamin trafficking protein CblD (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens