DFNB59 Back

deafness, autosomal recessive 59

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NCBI Description of DFNB59

The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59).

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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

DFNB59 is highly significantly mutated in
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DFNB59 is significantly mutated in
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DFNB59 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 DFNB59