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Table 2 Characteristics of the MYH14 variant, analysis of predicted protein structure and disease-causing effects

From: A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss

   Variation        
Gene Exon Nucleotidea Amino acida Type Status SIFT PolyPhen 2 Mutation Taster 1000G DVD Clinvar LOVD3
MYH14 39 c.5417C > A p.A1806D missense Heter Damaging Damaging Disease causing – – – –
  1. c variation at cDNA level, Clinvar Clinvar Database, DVD Deafness Variation Database, 1000G 1000 Genomes, Heter heterozygote, LOVD3 Leiden Open Variation Database, p variation at protein level, MYH14 myosin heavy chain 14 (NM_001077186), PolyPhen 2 Polymorphism Phenotyping v2, SIFT sorts intolerant from tolerant
  2. aAll nucleotide and amino acid are abbreviated according to the International Union of Pure and Applied Chemistry
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BMC Medical Genetics

ISSN: 1471-2350

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