Molecular Features of SLC26A4 Common Variant p.L117F

Keyphrases

• Pathogenicity 100%
• Common Variants 100%
• SLC26A4 100%
• Molecular Features 100%
• Pendrin 66%
• Ion Transport 66%
• Pendred Syndrome 66%
• DFNB4 66%
• Cell-based 33%
• Expression Level 33%
• Functional Traits 33%
• Jewish Community 33%
• Functional Test 33%
• Orthologs 33%
• Subcellular Localization 33%
• Endoplasmic Reticulum 33%
• Ashkenazi Jews 33%
• Ubiquitin-proteasome System 33%
• Nonsyndromic 33%
• Confocal Microscopy 33%
• Best Model 33%
• Ion Exchanger 33%
• Transport Activity 33%
• Syndromic 33%
• SLC26A4 Gene 33%
• Protein Expression Level 33%
• Complex Allele 33%
• Accelerated Degradation 33%
• Minor Allele Frequency 33%
• Transport Function 33%
• Fluorometric Method 33%
• Autosomal Recessive Nonsyndromic Hearing Loss (ARNSHL) 33%
• Strong Reduction 33%
• Protein Variants 33%
• Partial Retention 33%
• Allelic Data 33%

Biochemistry, Genetics and Molecular Biology

• Pendrin 100%
• Ion Transport 100%
• Wild Type 50%
• Ubiquitin 50%
• Allele 50%
• Orthology 50%
• Subcellular Localization 50%
• Autosomal Recessive Inheritance 50%
• Proteasome 50%
• Confocal Microscopy 50%
• Protein Expression Level 50%
• Minor Allele Frequency 50%

Immunology and Microbiology

• Pathogenicity 100%
• Ion Transport 66%
• Wild Type 33%
• Allele 33%
• Endoplasmic reticulum 33%
• Proteasome 33%
• Cellular Distribution 33%
• Orthology 33%
• Autosomal Recessive Inheritance 33%
• Gene Frequency 33%
• Protein Expression Level 33%
• Ubiquitins 33%
• Confocal Microscopy 33%