Home  |  Contact

UniProtKB/Swiss-Prot P05165: Variant p.Ala138Thr

Propionyl-CoA carboxylase alpha chain, mitochondrial
Gene: PCCA
Variant information

Variant position:  138
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Alanine (A) to Threonine (T) at position 138 (A138T, p.Ala138Thr).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and hydrophobic (A) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In PA-1; loss of function.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  138
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:   SKSYLNMDAIMEAIKKTRAQ  A VHPGYGFLSENKEFARCLAA
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                         SKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAA

Mouse                         SKSYLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFAKRLAA

Rat                           SKSYLNMDAIMEAIKKTGAQAVHPGYGFLSENKEFAKCLAA

Pig                           SKSYLNMDAIMEAVRTTRAQAVHPGYGFLSENKEFAKCLAA

Caenorhabditis elegans        AKSYLRADRILQAVEDTGAQAVHPGYGFLSENTKFAAELEK

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.

TypePositionsDescription
Chain 53 – 728 Propionyl-CoA carboxylase alpha chain, mitochondrial
Domain 62 – 509 Biotin carboxylation
Modified residue 119 – 119 N6-succinyllysine
Modified residue 150 – 150 N6-acetyllysine; alternate
Modified residue 150 – 150 N6-succinyllysine; alternate


Literature citations

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects: identification of five novel mutations, one of them causing instability of the protein.
Richard E.; Desviat L.R.; Perez B.; Perez-Cerda C.; Ugarte M.;
Biochim. Biophys. Acta 1453:351-358(1999)
Cited for: VARIANTS PA-1 TRP-77; THR-138; THR-164; LYS-373 AND ARG-631; CHARACTERIZATION OF VARIANTS PA-1 TRP-77; THR-138; THR-164; LYS-373 AND ARG-631; FUNCTION; SUBCELLULAR LOCATION;

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.