https://padlet.com/tdf001/k4bl4020e0j1bvan autosomal dominant nonsyndromic sensorineural deafness-12 (DFNA-12) en-us 2021-10-21 22:56:01 UTC 2021-12-06 22:40:17 UTC hello@padlet.com tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834846938 Autosomal dominant nonsyndromic sensorineural deafness-12 (DFNA-12) ]]> 2021-10-21 23:06:39 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834846938 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834847423 TECTA ]]> 2021-10-21 23:07:05 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834847423 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834848199 11q23

]]> 2021-10-21 23:07:48 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834848199 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834866048 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.

]]> 2021-10-21 23:23:05 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834866048 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834869717 Mid frequency (500-2000 Hz) with prelingual onset. Hearing loss is mild to moderately severe, and there is no progression with age.

]]> 2021-10-21 23:26:07 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834869717 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834903480 At base position 5331 in the TECTA gene an adenosine base is substituted where a guanine base is normally in the wild type. (2)

]]> 2021-10-21 23:51:49 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834903480 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834911079
5'-ucccugccauugcccagcucgcaaguucg-3'

]]> 2021-10-21 23:56:54 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834911079 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834911263
5'-ucccugccauugccUagcucgcaaguucg-3']]> 2021-10-21 23:57:02 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1834911263 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836812065 3'-cgaactgcgagctgggcaatggcaggga-5']]> 2021-10-22 16:59:11 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836812065 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836813294 3'-cgaacttgcgagctAggcaatggcaggga-5']]> 2021-10-22 16:59:48 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836813294 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836847797 5'-ucc-cug-cca-uug-ccc-agc-ucg-caa-guu-cg-3'

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


]]> 2021-10-22 17:13:22 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836847797 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836859698 5'-ucc-cug-cca-uug-ccU-agc-ucg-caa-guu-cg-3'

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


]]> 2021-10-22 17:19:33 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836859698 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836873642 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)]]> 2021-10-22 17:26:43 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836873642 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836911178 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)]]> 2021-10-22 17:45:31 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836911178 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836917175 Transcription would continue normally other than the single base change. The mRNA has a uracil instead of a cytosine.]]> 2021-10-22 17:48:30 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836917175 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836962994 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. ]]> 2021-10-22 18:11:24 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836962994 tdf001 https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836964241 Bocchini, Carol, and Victor McKusick. “OMIM Entry - # 601543 - Deafness, Autosomal Dominant 12 ...” OMIM, 7 Oct. 2020, https://www.omim.org/entry/601543. ]]> 2021-10-22 18:12:04 UTC https://padlet.com/tdf001/k4bl4020e0j1bvan/wish/1836964241