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 | – | – | – | |
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 | – | + | – | – |