Variant position: 398 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 728 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 KGYPLRHKQADIRINGWAVE CRVYAEDPYKSFGLPSIGRLS
Mouse KGYPLRHKQEDIPISGWAVE CRVYAEDPYKSFGLPSIGRLS
Rat KGYPLRHKQEDIPISGWAVE CRVYAEDPYKSFGLPSIGRLS
Pig KGYPLRHRQADIPINGWAVE CRVYAEDPYKSFGLPSIGRLS
Caenorhabditis elegans YGHPLPITQEQVPLNGWAFE SRVYAEDPYKGFGLPSVGRLS
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
53 – 728 Propionyl-CoA carboxylase alpha chain, mitochondrial
62 – 509 Biotin carboxylation
409 – 409 Biotin; via carbonyl oxygen
385 – 385 N6-succinyllysine
407 – 407 N6-succinyllysine
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Yang X.; Sakamoto O.; Matsubara Y.; Kure S.; Suzuki Y.; Aoki Y.; Yamaguchi S.; Takahashi Y.; Nishikubo T.; Kawaguchi C.; Yoshioka A.; Kimura T.; Hayasaka K.; Kohno Y.; Iinuma K.; Ohura T.;
Mol. Genet. Metab. 81:335-342(2004)
Cited for: VARIANTS PA-1 TRP-77; GLU-197; ARG-297; ARG-398; GLN-399; LEU-423 AND LEU-559;
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.