Literature summary for 6.4.1.3 extracted from

Rodriguez-Pombo, P.; Perez-Cerda, C.; Perez, B.; Desviat, L.R.; Sanchez-Pulido, L.; Ugarte, M.
Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase (2005), Biochim. Biophys. Acta, 1740, 489-498.

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Protein Variants

Protein Variants	Comment	Organism
G246V	activity of the mutant enzyme is 12% of the wild-type activity	Homo sapiens
L519P	activity of the mutant enzyme is less than 1% of the wild-type activity	Homo sapiens
additional information	intragenic complementation analysis to 15 naturally occuring mutations in the PCCB gene	Homo sapiens
R165W	activity of the mutant enzyme is less than 1% of the wild-type activity	Homo sapiens
R410W	activity of the mutant enzyme is 9% of the wild-type activity	Homo sapiens
R512C	activity of the mutant enzyme is less than 1% of the wild-type activity	Homo sapiens
V205D	activity of the mutant enzyme is less than 1% of the wild-type activity	Homo sapiens
W531X	activity of the mutant enzyme is less than 1% of the wild-type activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
additional information	cell line 3152 and cell line 13042	Homo sapiens	-
skin fibroblast	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
PCC	-	Homo sapiens

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Release 2023.1 (January 2023)