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Table 3 MYH14 gene mutations related with sensorineural hearing loss

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

Exon Mutationa Amino acid change Type of variant Reference DVD ClinVar LOVD3
E-1 c.20 C > A S7X Nonsense Donaudy(2004) [7] + + +
E-2 c.73 C > T G25X Nonsense Kim(2016) [17]
E-2 c.359 C > T S120L Missense Yang(2010) [16] + + +
E-2 c.466C > T S120L Missense Yang(2005) [3]
E-3 c.541 G > A A181T Missense Qing (2014) [25] + +
E-3 c.572 A > G A191G Missense Kim(2016) [17]
E-9 c.1126G > T G376C Missense Donaudy(2004) [7]
E-12 c.1314del P438L Missense +
E-16 c.2176 C > A R726S Missense Donaudy(2004) [7] +
E-19 c.2299C > A A767S Missense + +
E-20 c.2569A > C L857G Missense +
E-22 c.2594C > T T865 M Missense Qing (2014) [25] +
E-22 c.2692A > C L898G Missense +
E-23 c.2717C > T T906M Missense +
E-23 c.2798G > T A933L Missense +
E-23 c.2822G > T R941L Missense Choi(2011) [6, 26]
E-24 c.2921G > T A974L Missense + +
E-24 c.2926C > T L976F Missense Donaudy(2004) [7] +
E-24 c.2971G > A G991L Missense +
E-25 c.3049C > T L1017P Missense + +
E-33 c.4780G > A G1594L Missense +
E-34 c.4885C > T A1629C Missense +
E-35 c.4903G > A G1635L Missense +
E-36 c.5008C > T A1670C Missense Vona (2014) [27] +
E-39 c.5417C > A A1806D Missense this study - - -
E-41 c.5893G > T G1965X Nonsense - - - +
E-43 c.6016G > T G2006T Missense +
  1. c variation at cDNA level, Clinvar Clinvar Database, DVD Deafness Variation Database, LOVD3 Leiden Open Variation Databas, MYH14 myosin heavy chain 14 (NM_001077186)
  2. aAll nucleotide and amino acid are abbreviated according to the International Union of Pure and Applied Chemistry