[Term]
id: PR:000026121
name: methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB I437V (human)
def: "A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that lacks the region encoded by the last 64 bp in exon 14 due to the missense mutation I437V introducing a splice site at the position equivalent to Ile-437 of the amino acid sequence represented by UniProtKB:Q9HCC0-1." [PMID:11181649, PRO:CNA]
comment: Category=organism-sequence. Cannot map to UniProtKB_VAR:VAR_012801 because the sequence shows only amino acid change, while the rest of the sequence remains the same.
synonym: "hMCCC2/var:MCCB I437V" EXACT PRO-short-label [PRO:DNx]
is_a: PR:000026117 ! methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens