Analysis on Association between Molecular Evolution of Human GJB2 Gene and Hereditary Effect with Deafness
Bibliographic record
Abstract
Gap junction protein β2 ( GJB2 ) gene mutations are associated with the hereditary non-syndromic hearing loss. With their wide mutation types and specifically high frequent mutations, it was considered to be a unique deafness gene. In this research, GJB2 proteins were systematically studied with the means of Bioinformatics including molecular phylogeny, conservation, transmembrane region, three-dimensional structure and missence mutations analysis, combined with reported experimental results. 166 fixed amino acid sites, 2 non-conservative regions and 2 conservative sites of spatial structure were predicted. Association analysis results demonstrated that the mutations in conservative site were more likely to be pathogenic; the frequency of mutation sites in non-conservative regions was smaller than conservative regions; a mutation in transmembrane region changing the amino acid's property presumably affects GJB2 protein spatial structure and thus would alter the member channel's permeability. This paper provides a theoretical basis for further study of the relationship between GJB2 gene mutations and deafness, and it also may have the reference value for other diseases' research.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".