Varaico: Literature-Extracted Genetic Variants

Gene:PEPD
Variant:p.E412K
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PEPD

NM_000285.4:p.E412K

Associated Papers

Next-generation sequencing of prolidase gene identifies novel and common variants associated with low prolidase in coronary artery ectasia.

Pekkoc-Uyanik KC et al.

Molecular Biology Reports, 2023

Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing.

Linhares ND et al.

Genetics and Molecular Biology, 2021

Co-expression with chaperones can affect protein 3D structure as exemplified by loss-of-function variants of human prolidase.

Wątor E et al.

Febs Letters, 2020

Clinical Genetics of Prolidase Deficiency: An Updated Review.

Spodenkiewicz M et al.

Biology, 2020

Structural basis for prolidase deficiency disease mechanisms.

Wilk P et al.

The Febs Journal, 2018

Comprehensive in-silico prediction of damage associated SNPs in Human Prolidase gene.

Bhatnager R et al.

Scientific Reports, 2018

Structural basis of substrate selectivity of E. coli prolidase.

Weaver J et al.

Plos One, 2014

Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue.

Besio R et al.

Plos One, 2013

Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations.

Lupi A et al.

Amino Acids, 2008

Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.

Lupi A et al.

Journal of Medical Genetics, 2006

Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.

Basu S et al.

Pediatric Dermatology, 0

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