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Bocchini, Carol, and Victor McKusick. “OMIM Entry - # 601543 - Deafness, Autosomal Dominant 12 ...” OMIM, 7 Oct. 2020, https://www.omim.org/entry/601543.

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Autosomal dominant nonsyndromic sensorineural deafness-12 (DFNA-12)

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TECTA

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11q23

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Provides instructions for making protein alpha-tectorin. The protein is in the tectorial membrane, part of the cochlea. Alpha-tectorin normally interacts with other proteins, and the interactions are crucial for proper hearing.

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Mid frequency (500-2000 Hz) with prelingual onset. Hearing loss is mild to moderately severe, and there is no progression with age.

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At base position 5331 in the TECTA gene an adenosine base is substituted where a guanine base is normally in the wild type. (2)

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5'-ucccugccauugcccagcucgcaaguucg-3'

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5'-ucccugccauugccUagcucgcaaguucg-3'

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3'-cgaactgcgagctgggcaatggcaggga-5'

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3'-cgaacttgcgagctAggcaatggcaggga-5'

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5'-ucc-cug-cca-uug-ccc-agc-ucg-caa-guu-cg-3'

Ser-Leu-Pro-Leu-Pro-Ser-Ser-Gln-Val

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5'-ucc-cug-cca-uug-ccU-agc-ucg-caa-guu-cg-3'

Ser-Leu-Pro-Leu-Pro-Ser-Ser-Gln-Val

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While the amino acid sequence remains the same, different splice enhancers will bind than normally would. This causes binding ability of necessary enhancers to decrease, leading to a lack of function of alpha-tectorin.
(2)

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Alpha-tectorin is a major non-collagenous component of the tectorial membrane, an extracellular matrix of the inner ear. While this specific mutation only led to a single base change change in the DNA and mRNA sequences, there seemed to be no change in the amino acid sequence making it seem as if the mutation would have no affect. However, the splice enhancer SC35 loses its binding ability, making protein function inhibited. (2)

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Transcription would continue normally other than the single base change. The mRNA has a uracil instead of a cytosine.

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Collin, Rob & Heer, Anne-Martine & Oostrik, Jaap & Pauw, Robert & Plantinga, Rutger & Huygen, Patrick & Admiraal, Ronald & Brouwer, Arjan & Strom, Tim & Cremers, Cor & Kremer, Hannie. (2008). Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. European journal of human genetics : EJHG. 16. 1430-6. 10.1038/ejhg.2008.110.