[Term]
id: PR:000026120
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB V339M (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Met residue at the position equivalent to Val-339 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Val-339, CHEBI:16044." [PMID:11181649, PRO:CNA]
comment: Category=organism-sequence.
synonym: "hMCCC2/var:MCCB V339M" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q9HCC0-1, Val-339, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_012800
is_a: PR:000026117 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens