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Article

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.

Molecular genetics and metabolism - 1 Jul 2024

Himmelreich Nastassja, Ramón-Maiques Santiago, Navarrete Rosa, Castejon-Fernandez Natalia, Garbade Sven F, Martinez Aurora, Desviat Lourdes R, Pérez Belén, Blau Nenad

Abstract excerpt

Phenylketonuria (PKU) is a genetic disorder caused by variations in the phenylalanine hydroxylase (PAH) gene. Among the 3369 reported PAH variants, 33.7% are missense alterations. Unfortunately, 30% of these missense variants are classified as variants of unknown significance (VUS), posing challenges for genetic risk assessment. In our study, we focused on analyzing 836 missense PAH variants following the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38905920
DOI: 10.1016/j.ymgme.2024.108514

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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