DFNB31 Back

deafness, autosomal recessive 31

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NCBI Description of DFNB31

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.

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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

DFNB31 is highly significantly mutated in
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DFNB31 is significantly mutated in
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DFNB31 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 DFNB31