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- W4316464584 abstract "The SOX transcription factor family is pivotal in controlling aspects of development. To identify genotype-phenotype relationships of SOX proteins, we performed a non-biased study of SOX using 1890 open-reading frame and 6667 amino acid sequences in combination with structural dynamics to interpret 3999 gnomAD, 485 ClinVar, 1174 Geno2MP, and 4313 COSMIC human variants. We identified, within the HMG (High Mobility Group)- box, twenty-seven amino acids with changes in multiple SOX proteins annotated to clinical pathologies. These sites were screened through Geno2MP medical phenotypes, revealing novel SOX15 R104G associated with musculature abnormality and SOX8 R159G with intellectual disability. Within gnomAD, SOX18 E137K (rs201931544), found within the HMG box of ~0.8% of Latinx individuals, is associated with seizures and neurological complications, potentially through blood-brain barrier alterations. A total of 56 highly conserved variants were found at sites outside the HMG-box, including several within the SOX2 HMG-box-flanking region with neurological associations, several in the SOX9 dimerization region associated with Campomelic Dysplasia, SOX14 K88R (rs199932938) flanking the HMG box associated with cardiovascular complications within European populations, and SOX7 A379V (rs143587868) within an SOXF conserved far C-terminal domain heterozygous in 0.716% of African individuals with associated eye phenotypes. This SOX data compilation builds a robust genotype-to-phenotype association for a gene family through more robust ortholog data integration." @default.
- W4316464584 created "2023-01-16" @default.
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- W4316464584 date "2023-01-14" @default.
- W4316464584 modified "2023-10-03" @default.
- W4316464584 title "Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships" @default.
- W4316464584 cites W1482955037 @default.
- W4316464584 cites W1505938172 @default.
- W4316464584 cites W1533927194 @default.
- W4316464584 cites W1537985401 @default.
- W4316464584 cites W1540619191 @default.
- W4316464584 cites W1683181063 @default.
- W4316464584 cites W1828460453 @default.
- W4316464584 cites W1881807356 @default.
- W4316464584 cites W1918663251 @default.
- W4316464584 cites W1963802568 @default.
- W4316464584 cites W1964426200 @default.
- W4316464584 cites W1965570897 @default.
- W4316464584 cites W1967151948 @default.
- W4316464584 cites W1974775319 @default.
- W4316464584 cites W1980147031 @default.
- W4316464584 cites W1982565098 @default.
- W4316464584 cites W1989315963 @default.
- W4316464584 cites W1989773675 @default.
- W4316464584 cites W1992668049 @default.
- W4316464584 cites W1999534936 @default.
- W4316464584 cites W2001414770 @default.
- W4316464584 cites W2002207402 @default.
- W4316464584 cites W2003051889 @default.
- W4316464584 cites W2008321161 @default.
- W4316464584 cites W2010902174 @default.
- W4316464584 cites W2012234936 @default.
- W4316464584 cites W2013246689 @default.
- W4316464584 cites W2016405656 @default.
- W4316464584 cites W2019275879 @default.
- W4316464584 cites W2019921272 @default.
- W4316464584 cites W2021322749 @default.
- W4316464584 cites W2022572292 @default.
- W4316464584 cites W2024108088 @default.
- W4316464584 cites W2029132345 @default.
- W4316464584 cites W2029630083 @default.
- W4316464584 cites W2030966943 @default.
- W4316464584 cites W2033304672 @default.
- W4316464584 cites W2036921369 @default.
- W4316464584 cites W2037313882 @default.
- W4316464584 cites W2038603919 @default.
- W4316464584 cites W2040754512 @default.
- W4316464584 cites W2046971908 @default.
- W4316464584 cites W2047182840 @default.
- W4316464584 cites W2052250375 @default.
- W4316464584 cites W2055294930 @default.
- W4316464584 cites W2058761642 @default.
- W4316464584 cites W2059713300 @default.
- W4316464584 cites W2065380577 @default.
- W4316464584 cites W2066250513 @default.
- W4316464584 cites W2068098232 @default.
- W4316464584 cites W2069318982 @default.
- W4316464584 cites W2074332579 @default.
- W4316464584 cites W2081489444 @default.
- W4316464584 cites W2087447340 @default.
- W4316464584 cites W2098982430 @default.
- W4316464584 cites W2102424972 @default.
- W4316464584 cites W2103754873 @default.
- W4316464584 cites W2104567497 @default.
- W4316464584 cites W2105924489 @default.
- W4316464584 cites W2107303111 @default.
- W4316464584 cites W2108627006 @default.