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:
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--EEPLFPADELY GIVGANLKRSFDVREVIARIV
Mouse KMDVTIEPS--EEPLFPADELY GIVGANLKRSFDVREVIAR
Rat KLDVTVEPS--EEPLFPADELY GIVGANLKRSFDVREVIAR
Caenorhabditis elegans EEHMTFNPNA-DEPLYPAEEIY GIVGSNLKKTYDVREVIAR
Drosophila NFQTATPPSAVEEPRYDAEELY GIVGPNLTKSFDVREVIAR
Slime mold QPSPVITET--EEPLYPTSELA GIVPSDLKKNFDIRKVIAR
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
309 – 555 CoA carboxyltransferase C-terminal
49 – 555 Carboxyltransferase
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;
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