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Article

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.

Scientific reports - 17 Feb 2022

Gibson Joel T, Huang Mary, Shenelli Croos Dabrera Marina, Shukla Krushnam, Rothe Hansjörg, Hilbert Pascale, Deltas Constantinos, Storey Helen, Lipska-Ziętkiewicz Beata S, Chan Melanie M Y, Sadeghi-Alavijeh Omid, Gale Daniel P, Cerkauskaite Agne, Savige Judy

Abstract excerpt

Alport syndrome is the commonest inherited kidney disease and nearly half the pathogenic variants in the COL4A3-COL4A5 genes that cause Alport syndrome result in Gly substitutions. This study examined the molecular characteristics of Gly substitutions that determine the severity of clinical features. Pathogenic COL4A5 variants affecting Gly in the Leiden Open Variation Database in males with X-linked Alport...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35177655
DOI: 10.1038/s41598-022-06525-9
PMCID: PMC8854626

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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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