Table 1 MYO7A candidate variants for DFNA11 identified in this study.
From: The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
Exon | Base change | AA Change | Domain | SIFT | PP2HV | MutTaster | MutAssessor | REVEL | CADD Phred | dbscSNV | TOMMO 38KJPN | gnomAD exome | Pathogenicity | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
5 | c.[420C>G;5503G>C] | p.[N140K;E1835Q] | Myosin head | D | P | D | L | 0.415 | 20.3 | − | 0 | 0 | Uncertain_Significance | This study |
40 | MyTH4 domain | T | B | D | L | 0.593 | 13.9 | − | 0 | 0 | ||||
5 | c.[439C>T;1436T>C] | p.[R147C;L479P] | Myosin head | D | D | D | H | 0.67 | 34.0 | − | 0 | 0.000008 | Uncertain_Significance | This study |
13 | Myosin head | T | P | D | N | 0.468 | 23.7 | − | 0 | 0 | ||||
6 | c.[479C>G;2947G>T] | p.[S160C;D983Y] | Myosin head | D | D | D | H | 0.927 | 25.7 | − | 0 | 0 | AD_Pathogenic | Iwasa YI et al., PLoS One. 2016;11:e016 |
24 | – | D | B | D | M | 0.573 | 28.2 | − | 0.000013 | 0 | ||||
6 | c.547T>C | p.S183P | Myosin head | D | D | D | M | 0.858 | 26.5 | − | 0 | 0 | Uncertain_Significance | This study |
7 | c.689C>T | p.A230V | Myosin head | D | D | D | M | 0.818 | 35.0 | − | 0 | 0 | AD_Pathogenic | Di Leva F et al., Audiol Neurootol. 2006;11:157–64 |
13 | c.1436T>C | p.L479P | Myosin head | T | P | D | N | 0.468 | 23.7 | − | 0 | 0 | AD_Pathogenic | This study |
17 | c.1966C>G | p.L656V | Myosin head | D | D | D | M | 0.788 | 26.8 | − | 0.000039 | 0 | Uncertain_Significance | This study |
17 | c.1978G>A | p.G660R | Myosin head | D | D | D | H | 0.976 | 32.0 | − | 0 | 0 | AD_Pathogenic | Iwasa YI et al,. PLoS One. 2016;11:e016 |
17 | c.2003G>A | p.R668H | Myosin head | D | D | D | H | 0.886 | 34.0 | − | 0 | 0 | AD_Likely_Pathogenic | Sang Q et al., PLoS One. 2013;8:e55178 |
18 | c.2185A>G | p.K729E | Myosin head | D | P | D | H | 0.926 | 24.5 | 0.0662 | 0 | 0 | Uncertain_Significance | This study |
21 | c.2558G>A | p.R853H | IQ motif | D | D | D | M | 0.741 | 34.0 | − | 0 | 0 | AD_Likely_Pathogenic | Shearer AE et al., J Med Genet. 2013;50(9):627–34 |
21 | c.2558G>T | p.R853L | IQ motif | D | P | D | H | 0.619 | 34.0 | − | 0 | 0 | Uncertain_Significance | This study |
22 | c.2600T>A | p.L867H | IQ motif | T | B | D | L | 0.407 | 23.5 | − | 0.000039 | 0 | Uncertain_Significance | This study |
22 | c.2651T>C | p.M884T | − | T | B | D | M | 0.662 | 16.9 | - | 0 | 0 | Uncertain_Significance | This study |
22 | c.2665G>A | p.A889T | − | T | B | D | M | 0.475 | 23.4 | - | 0 | 0 | Uncertain_Significance | This study |
23 | c.2708A>C | p.Q903P | − | T | B | D | L | 0.682 | 24.1 | - | 0 | 0 | Uncertain_Significance | This study |
23 | c.2717G>C | p.R906P | − | D | P | D | M | 0.623 | 25.5 | - | 0 | 0 | Uncertain_Significance | This study |
23 | c.2837_2839del | p.M946_F947delinsL | − | − | − | − | − | − | − | − | 0 | 0 | Uncertain_Significance | This study |
23 | c.2839T>G | p.F947V | − | D | D | D | M | 0.845 | 28.2 | − | 0 | 0 | Uncertain_Significance | This study |
31 | c.4118G>A | p.R1373Q | FERM domain | D | D | D | M | 0.638 | 34.0 | − | 0.000040 | 0 | Uncertain_Significance | This study |
32 | c.4157A>G | p.D1386G | FERM domain | D | B | D | M | 0.433 | 25.2 | − | 0 | 0.000004 | Uncertain_Significance | This study |
37 | c.5138C>T | p.T1713M | SH3 domain | D | D | D | M | 0.747 | 34.0 | − | 0.000013 | 0.000019 | Uncertain_Significance | This study |
48 | c.6529G>A | p.G2177R | FERM domain | D | D | D | M | 0.751 | 34.0 | − | 0 | 0 | Uncertain_Significance | This study |
