Variant position: 268 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 563 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KAATGEEVSAEDLGGADLHC RKSGVSDHWALDDHHALHLTR
Mouse KAATGEEVSAEDLGGADLHC RKSGVTDHYALDDHHALHLTR
Rat KAATGEEVSAEDLGGADLHC RRSGVTDHYALDDHHALHLTR
Caenorhabditis elegans KAATGEEISAEELGGADLHC GESGVTDYYAHNDKHALYLAR
Drosophila KAATGEEVSAEDLGGADLHC KTSGVTDHYALDDEHALYLAR
Slime mold KAATGEIVTSEELGGADLHC RTSGVTDHYARDDAEAIAITR
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
23 – 563 Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
49 – 306 CoA carboxyltransferase N-terminal
49 – 555 Carboxyltransferase
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.
Holzinger A.; Roeschinger W.; Lagler F.; Mayerhofer P.U.; Lichtner P.; Kattenfeld T.; Thuy L.P.; Nyhan W.L.; Koch H.G.; Muntau A.C.; Roscher A.A.;
Hum. Mol. Genet. 10:1299-1306(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MCC2D THR-268;
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
Dantas M.F.; Suormala T.; Randolph A.; Coelho D.; Fowler B.; Valle D.; Baumgartner M.R.;
Hum. Mutat. 26:164-174(2005)
Cited for: VARIANTS MCC2D GLN-99; TRP-155; GLN-155; TYR-190; THR-268; ARG-282; ARG-310; PHE-375 AND VAL-456; CHARACTERIZATION OF VARIANTS TYR-190 AND ARG-352;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.