Literature summary for 3.4.13.9 extracted from

Falik-Zaccai, T.; Khayat, M.; Luder, A.; Frenkel, P.; Magen, D.; Brik, R.; Gershoni-Baruch, R.; Mandel, H.
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability (2010), Am. J. Med. Genet. B Neuropsychiatr. Genet., 153, 46-56.

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Protein Variants

Protein Variants	Comment	Organism
A212P	naturally occuring mutation involved in prolidase deficiency	Homo sapiens
L368R	naturally occuring mutation involved in prolidase deficiency	Homo sapiens
additional information	identification of 17 mutations involved in prolidase deficiency, a rare, pan-ethnic, autosomal recessive disease with a broad phenotypic spectrum. Phenotypes of 20 prolidase deficient patients of Arab Moslem and Druze origin from 10 kindreds residing in northern Israel, overview	Homo sapiens
S202F	naturally occuring mutation involved in prolidase deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
serum	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
prolidase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	prolidase deficiency is a rare, pan-ethnic, autosomal recessive disease with a broad phenotypic spectrum	Homo sapiens

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Release 2023.1 (January 2023)