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Article

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.

Nucleic acids research - 1 Jan 2007

Sahashi Kentaro, Masuda Akio, Matsuura Tohru, Shinmi Jun, Zhang Zhujun, Takeshima Yasuhiro, Matsuo Masafumi, Sobue Gen, Ohno Kinji

Abstract excerpt

We have found that two previously reported exonic mutations in the PINK1 and PARK7 genes affect pre-mRNA splicing. To develop an algorithm to predict underestimated splicing consequences of exonic mutations at the 5' splice site, we constructed and analyzed 31 minigenes carrying exonic splicing mutations and their derivatives. We also examined 189,249 U2-dependent 5' splice sites of the entire human genome and...

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Source

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Identifiers

PMID: 17726045
DOI: 10.1093/nar/gkm647
PMCID: PMC2094079

Genes

PARK7
PINK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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