COLQ Back

collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase

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NCBI Description of COLQ

This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of COLQ Add / Edit COLQ: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

COLQ is highly significantly mutated in
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COLQ is significantly mutated in
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COLQ is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for COLQ