Sequence information
Variant position: 319 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:
KLDVTIEPSEEPLFPADELY
G IVGANLKRSFDVREVIARIV
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 KLDVTIEPS--EEPLFPADELYG IVGANLKRSFDVREVIARIV
Mouse KMDVTIEPS--EEPLFPADELYG IVGANLKRSFDVREVIAR
Rat KLDVTVEPS--EEPLFPADELYG IVGANLKRSFDVREVIAR
Caenorhabditis elegans EEHMTFNPNA-DEPLYPAEEIYG IVGSNLKKTYDVREVIAR
Drosophila NFQTATPPSAVEEPRYDAEELYG IVGPNLTKSFDVREVIAR
Slime mold QPSPVITET--EEPLYPTSELAG IVPSDLKKNFDIRKVIAR
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
Chain
23 – 563
Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
Domain
309 – 555
CoA carboxyltransferase C-terminal
Region
49 – 555
Carboxyltransferase
Literature citations
Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.
Yang L.; Yang J.; Zhang T.; Weng C.; Hong F.; Tong F.; Yang R.; Yin X.; Yu P.; Huang X.; Qi M.;
Clin. Genet. 88:484-488(2015)
Cited for: VARIANTS MCC2D ILE-139 AND ARG-319;
Disclaimer:
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.