[Term]
id: PR:000026122
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant D172fs (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that is a truncated variant due to a frameshift caused by nucleotide insertion. The sequence in this variant is truncated after residue Asp-172 of the amino acid sequence represented by UniProtKB:Q9HCC0. UniProtKB:Q9HCC0, 1-172." [PMID:11170888, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hMCCC2/var:D172fs" EXACT PRO-short-label [PRO:DNx]
synonym: "MCCB D172fs (human)" EXACT [PRO:DAN]
synonym: "MCC beta D172fs (human)" EXACT [PRO:DAN]
synonym: "UniProtKB:Q9HCC0, 1-172" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "UniProtKB:Q9HCC0-1, 1-172" NARROW PRO-proteoform-std [PRO:DAN]
is_a: PR:000026117 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens