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Article

Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1.

Biochemistry - 18 Jul 2006

Pegan Scott, Arrabit Christine, Slesinger Paul A, Choe Senyon

Abstract excerpt

Kir2.1 channels play a key role in maintaining the correct resting potential in eukaryotic cells. Recently, specific amino acid mutations in the Kir2.1 inwardly rectifying potassium channel have been found to cause Andersen's Syndrome in humans. Here, we have characterized individual Andersen's Syndrome mutants R218Q, G300V, E303K, and delta314-315 and have found multiple effects on the ability of the cytoplasmic...

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Share to Amino Acid Substitution
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Share to Crystallography, X-Ray

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Molecular Sequence Data

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Share to Potassium Channels, Inwardly Rectifying

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Source

Identifiers

PMID: 16834334
DOI: 10.1021/bi060653d

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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