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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05165: Variant p.Ile164Thr

Propionyl-CoA carboxylase alpha chain, mitochondrial
Gene: PCCA
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Variant information Variant position: help 164
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Threonine (T) at position 164 (I164T, p.Ile164Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to medium size and polar (T)
BLOSUM score: help -1
Variant description: help In PA-1; loss of function.
Other resources: help


Sequence information Variant position: help 164
Protein sequence length: help 728
Location on the sequence: help GFLSENKEFARCLAAEDVVF I GPDTHAIQAMGDKIESKLLA
Residue conservation: help 
Human                         GFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIESKLLA

Mouse                         GFLSENKEFAKRLAAEDVTFIGPDTHAIQAMGDKIESKLLA

Rat                           GFLSENKEFAKCLAAEDVTFIGPDTHAIQAMGDKIESKLLA

Pig                           GFLSENKEFAKCLAAEGVIFIGPDTHAIQAMGDKIESKLLA

Caenorhabditis elegans        GFLSENTKFAAELEKAGAKFIGPNSKAILDMGDKIHSKKIA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 53 – 728 Propionyl-CoA carboxylase alpha chain, mitochondrial
Domain 62 – 509 Biotin carboxylation
Binding site 177 – 177
Modified residue 150 – 150 N6-acetyllysine; alternate
Modified residue 150 – 150 N6-succinyllysine; alternate
Beta strand 162 – 165



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.