[Term]
id: PR:000061613
name: methylmalonic aciduria type A protein, mitochondrial sequence variant Y207C, transit peptide removed form (human)
def: "A methylmalonic aciduria type A protein, mitochondrial (human) that has a Cys residue at the position equivalent to Tyr-207 of the amino acid sequence represented by UniProtKB:Q8IVH4 and that has had the transit peptide removed. UniProtKB:Q8IVH4, 66-418, Tyr-207, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-3322133]
comment: Category=organism-modification.
synonym: "hMMAA/var:Y207C/TransPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "MMAA Y207C" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-3322133]
synonym: "UniProtKB:Q8IVH4, 66-418, Tyr-207, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-3322133 "PR:000061613 located_in GO:0005759"
is_a: PR:Q8IVH4 ! methylmalonic aciduria type A protein, mitochondrial (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens