Variant position: 120 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 725 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 PAPSQQSYLSMEKIIQVAKT SAAQAIHPGCGFLSENMEFAE
Mouse PAPSQQSYLAMEKIIQVAKS SAAQAIHPGYGFLSENMEFAE
Rat PAPSQQSYLAMEKIIQVAKS SAAQAIHPGYGFLSENMEFAE
Slime mold PAAAKESYLCGNKIIDVAKR SGAQAIHPGYGFLSENSDFAD
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
42 – 725 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
48 – 494 Biotin carboxylation
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
Fonseca H.; Azevedo L.; Serrano C.; Sousa C.; Marcao A.; Vilarinho L.;
Cited for: VARIANTS MCC1D PHE-120; SER-130; LYS-383 AND SER-385;
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