POR Splicing Variants: Functional and Structural Characterization in PORD

Data Sheet 1_Functional and structural characterization of POR splicing variants reveals pathogenic mechanisms in PORD is a 106.0 KB document authored by Xin Jie Zhang and last updated in April 2026. It details a study of five POR gene splicing variants, using minigene assays and structural prediction to classify their pathogenicity in P450 oxidoreductase deficiency.

Use Cases

• Classifying pathogenicity of genetic splicing variants based on minigene assay results.
• Predicting structural consequences of exon skipping or intron retention using AlphaFold models.
• Correlating specific POR variants with clinical phenotypes like disorders of sex development.
• Assessing nonsense-mediated mRNA decay mechanisms based on cycloheximide block experiments.

Strengths

• Includes analysis of five specific POR splicing variants (c.731+1G>A, c.732-2A>T, c.947+1G>A, c.948-30G>A, c.1249-2A>C).
• Provides functional characterization via minigene assays and structural predictions.
• Classifies variants with specific pathogenicity labels (pathogenic, likely pathogenic, likely benign).

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• Data is contained in a single 106.0 KB DOC file, indicating a limited scope.

Provenance

Source

Xin Jie Zhang via figshare.

Collection Method

Research combining case review, minigene assays, and structural prediction.

Time Range

Publication date implied as 2026.

Freshness

Last updated 2026-04-27 04:11:23; freshness should be verified.

Geography

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