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Article

Molecular effect of a novel missense mutation, L266V, on function of ClC-5 protein in a Japanese patient with Dent's disease.

Clinical nephrology - 1 Jul 2014

Ashida Akira, Yamamoto Daisuke, Nakakura Hyogo, Shirasu Akihiko, Matsumura Hideki, Sekine Takashi, Igarashi Takashi, Tamai Hiroshi

Abstract excerpt

UNLABELLED: We report the use of three dimensional computational analysis of chloride channel 5 (ClC-5) based on a novel mutation, L266V, identified in a 15-year-old Japanese boy with Dent's disease. Since both leucine and valine are branched-chain amino acids, it has not been proved conclusively...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23211344
DOI: 10.5414/CN107810

Genes

CLC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23211344-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Molecular effect of a novel missense mutation, L266V, on function of ClC-5 protein in a Japanese patient with Dent's disease.PMID 23211344Read ↗

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Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.Semantic proximity Read ↗

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