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Table 5 Overview of published variants of the MYO15A in NSHL patients

From: Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients

Exon Domain Nucleotide Change Amino Acid Change Age of Onset Hearing Levela ACMG Classificationb Origin of Family Reference
2 N-terminal c.373_374delCG p.Arg125Valfs*101 – Profound – Ashkenazi, Jewish Brownstein (2011)
2 N-terminal c.419del p.Lys140Serfs*304 – Profound – – Zhang (2019)
2 N-terminal c.453_455delCGAinsTGGACGCCTGGTCGGGCAGTGG p.Glu152Glyfs*81 Progressive Mild and Profound – Qatar Vozzi (2014)
2 N-terminal c.514C > T p.Leu172Phe – – LP Japan Miyagawa (2013)
2 N-terminal c.535G > T p.Glu179Ter Congenital Moderate and severe P Korea, Japan Park (2014), Miyagawa (2015)
2 N-terminal c.554G > A p.Gly185Asp – – U Japan Miyagawa (2013)
2 N-terminal c.613 T > C p.Phe205Leu – – U Japan Miyagawa (2013)
2 N-terminal c.625G > T p.Glu209Ter – Severe to profound P – Zhang (2019)
2 N-terminal c.671A > G p.Tyr224Cys – – U Japan Miyagawa (2013)
2 N-terminal c.742C > G p.Arg248Gly – – P – Rehman (2016)
2 N-terminal c.855dup p.Pro286Serfs*15 Congenital Severe to profound P China Zhang (2019)
2 N-terminal c.867C > G p.Tyr289Ter Congenital or prelingual, progressive Moderate to severe/R P Turkey Cengiz (2010)
2 N-terminal c.1047C > A p.Tyr349Ter – – P Russian Imtiaz (2011)
2 N-terminal c.1047C > T p.Tyr349 =  – – LB Saudi Arabia Sloan-Heggen (2015), Imtiaz (2011)
2 N-terminal c.1137delC p.Tyr380Metfs*65 Prelingual progressive Normal between 0.125 and 0.25 kHz/S P German Vona (2014)
2 N-terminal c.1171_1177dupGCCATCT p.Tyr393Cysfs*41 Congenital Severe to profound P Oman Palombo (2017)
2 N-terminal c.1185dupC p.Glu396Argfs*36 10–14 y congenital Moderate to profound/R P Pakistan, Japan Bashir (2012), Miyagawa (2013)
2 N-terminal c.1223C > T p.Ala408Val – – P – Brownstein (2014)
2 N-terminal c.1387A > G p.Met463Val Congenital Severe to profound/R C Iran Fattahi (2012)
2 N-terminal c.1454 T > C p.Val485Ala – – C – Sloan-Heggen (2015)
2 N-terminal c.1634C > T p.Ala545Val – – C – Sloan-Heggen (2015)
2 N-terminal c.1651G > A p.Ala551Thr Congenital Severe to profound U - Zhang (2019)
2 N-terminal c.2456C > A p.Ser819Ter Congenital Severe to profound LP Pakistan Richard (2019)
2 N-terminal c.2516del p.Pro839Argfs*24 – – P Iran Sloan-Heggen (2015)
2 N-terminal c.2759G > A p.Trp920Ter Congenital Moderate – Iran Sloan-Heggen (2015)
2 N-terminal c.3020C > A p.Pro1009His Congenital – – China Yang (2013)
2 N-terminal c.3026C > A p.Pro1009His Congenital – C China Yang (2013)
2 N-terminal c.3313G > T p.Glu1105Ter Congenital Profound P Pakistan Nal (2007), Miyagawa (2013)
2 N-terminal c.3334delG p.Arg1112fs*1124 Congenital Mild to Profound/R – Pakistan Nal (2007), Miyagawa (2013)
2 N-terminal c.3505C > T p.Arg1169Ter Congenital Severe to profound P Pakistan Richard (2019)
2 N-terminal c.3524dupA p.Ser1175Valfs*1188 Congenital Severe/R P China Li (2016)
2 N-terminal c.3524dup p.Ser1176Valfs*14 Congenital Mild P China Zhang (2019)
2 Motor c.3685C > T p.Gln1229Ter Congenital Profound P Pakistan Liburd (2001)
Intron 4 Motor c.3756 + 1G > T p.Asp1232fs*1241 Congenital Profound P Pakistan Liburd (2001)
4 Motor c.3742C > T p.Arg1248Thr Congenital Severe U China Zhang (2019)
4 Motor c.3758C > T p.Thr1253Ile Congenital Severe to profound P India Nal (2007)
Intron 5 Motor c.3866 + 1G > A p.Thr1253fs*1277 Congenital Moderate to profound P Pakistan Nal (2007), Naz (2017)
5 Motor c.3844C > T p.Arg1282Trp Congenital Severe to profound U Netherlands Neveling (2013)
6 Motor c.3866dupC p.His1290Alafs*25 Congenital Severe to profound U China Bai (2019)
6 Motor c.3871C > T p.Leu1291Phe Congenital Severe P – Zhang (2019)
6 Motor c.3892G > A p.Ala1298Thr Congenital Mild to Severe/R – China Gu (2015)
6 Motor c.3932 T > C p.Ile1311Thr – – LP – Zhang (2019)
6 Motor c.3944G > A p.Gly1315Glu – – P – Zhang (2019)
8 Motor c.4072G > A p.Gly1358Ser Second decade Moderate and severe   Japan Miyagawa (2015)
9 Motor c.4176C > A p.Tyr1392Ter – Severe to profound P Pakistan, Iran Nal (2007), Sloan-Heggen (2015)
9 Motor c.4198G > A p.Val1400Met Congenital or prelingual Severe to profound P and L Turkey Manzoli (2016), Cengiz (2010)
11 Motor c.4216G > A p.Glu1406Lys – – LP Japan Miyagawa (2013)
10 Motor c.4240G > A p.Glu1414Lys – – P Palestinian, Arab Brownstein (2011)
11 Motor c.4252G > A p.Gly1418Arg Congenital Moderate P China Zhang (2019)
10 Motor c.4273C > T p.Gln1425Ter – – P and LP Turkey Miyagawa (2015)
11 Motor c.4310A > G p.Tyr1437Cys Postlingual childhood Mild moderate U Iran Sloan-Heggen (2015)
11 Motor c.4313 T > C p.Leu1438Pro Congenital Severe to profound P – Zhang (2019)
Intron 11 Motor c.4320 + 1G > A – – – P and LP Korea Park (2014), Woo (2013)
12 Motor c.4322G > T p.Gly1441Val Congenital Mild and Severe/R P and LP Japan; China Miyagawa (2013), Gu (2015), Moteki (2016)
11 Motor c.4351G > A p.Asp1451Asn – Severe to profound P and LP India Nal (2007)
11 Motor c.4441 T > C p.Ser1481Pro Congenital or prelingual Severe to profound P and LP Turkey Cengiz (2010), Diaz-Horta (2012)
13 Motor c.4519C > T p.Arg1507Ter Congenital Severe to profound P Iran Sarmadi (2020)
13 Motor c.4528C > T p.Gln1510Ter – – P and LP Pakistan Sloan-Heggen (2015)
13 Motor c.4642G > A p.Ala1548Thr Congenital Severe to profound P China Chen (2016)
13 Motor c.4652C > A p.Ala1551Asp – – – Turkey Miyagawa (2015)
Intron 14 Motor c.4655 + 1G > A – – – P and LP Iran Sloan-Heggen (2015)
15 Motor c.4666G > A p.Ala1556Thr – mild U China Zhang (2019)
15 Motor c.4669A > G p.Lys1557Glu – Severe to profound – Pakistan Nal (2007)
15 Motor c.4747 T > C p.Ser1583Pro Congenital Profound – China Zhang (2019)
15 Motor c.4777G > A p.Glu1593Lys – – U – Sloan-Heggen (2015)
15 Motor c.4780G > C p.Asp1594His Congenital Severe to profound P – Zhang (2019)
15 Motor c.4823C > A p.Ala1608Glu Congenital Profound – China Zhang (2019)
16 Motor c.4828G > A p.Glu1610Lys – – U Japan Miyagawa (2013)
17 Motor c.4888C > G p.Arg1630Gly – – U Japan Miyagawa (2013)
17 Motor c.4898 T > C p.Ile1633Thr Congenital Severe/R U China, Pakistan Gu (2015), Rehman (2016)
17 Motor c.4904_4907delGAG p.Gly1637del Postlingual Severe to profound P and LP Iran Fattahi (2012)
17 Motor c.4952C > T p.Ser1651Leu – – U – Sloan-Heggen (2015)
16 Motor c.4998G > A p.Cys1666Ter – – – Tunisia Belguith (2009)
18 Motor c.5087dup p.Pro1697Alafs*2 Congenital Severe to profound P – Zhang (2019)
18 Motor c.5117_5118GC > TT p.Leu1706Val – Severe to profound – Pakistan Belguith (2009)
19 Motor c.5141A > T p.Leu1714Met Congenital Moderate U – Zhang (2019)
18 Motor c.5189 T > C p.Gly1730Pro – Severe to profound – Pakistan Nal (2007)
19 Motor c.5203C > T p.Arg1735Trp – – U – Zhang (2019)
19 Motor c.5212-2A > G – – – U Turkey Atik (2015)
20 Motor c.5287C > T p.Arg1763Trp – – B Netherlands Neveling (2013)
20 Motor c.5305A > G p.Thr1769Ala Congenital Severe to profound/R – Iran Fattahi (2012)
20 Motor c.5336 T > C p.Leu1779Pro Congenital Profound U Algerian Ammar-Khodja (2015)
22 Motor c.5417 T > C p.Leu1806Pro – – P – Zhang (2019)
22 Motor c.5421delT p.Phe1807Leufs*6 Congenital Severe to profound /R – Iran Fattahi (2012)
21 Motor c.5492G > T p.Gly1831Val – Severe to profound P Turkey Kalay (2007)
22 Motor c.5504G > A p.Arg1835His Postlingual, progressive Mild to severe/R – Korea Chang (2018)
22 Motor c.5507 T > C p.Leu1836Pro Congenital Profound – China Zhang (2019)
Intron 22 Motor c.5650-1G > A p.Ala1884Ter – – – Turkey Duman (2011)
24 Motor c.5692C > T p.Arg1898Ter – – U China Zhang (2019)
23 Motor c.5808_5814delCCGTGGC p.Arg1937Thrfs*10 Congenital or prelingual Severe to profound P and LP Turkey Cengiz (2010)
23 IQ3 c.5809C > T p.Arg1937Cys – – U Iran, Pakistan Rehman (2016), Sloan-Heggen (2015)
23 IQ3 c.5810G > A p.Arg1937His Postlingual or congenital Mild and severe to profound/R P and LP Iran Fattahi (2012), Sloan-Heggen (2015)
23 IQ3 c.5835 T > G p.Tyr1945Ter Congenital Profound P Korea Chang (2015)
25 IQ Motif c.5925G > A p.Trp1975Ter Congenital Severe to profound/R C Iran Fattahi (2012)
Intron 26 IQ Motif c.5964 + 3G > A – – – U China Gao (2013)
27 IQ Motif c.5977C > T p.Arg1993Trp – – U China Zhang (2019)
27 IQ Motif c.5978G > A p.Arg1993Gln First decade/Postlingual Mild and severe/R C Japan Miyagawa (2015)
28 IQ Motif c.6052G > A p.Gly2018Arg – Mild B – Zhang (2019)
27 - c.6061C > T p.Gln2021Ter – Severe to profound – Pakistan Nal (2007)
27 IQ Motif c.6146C > A p.Pro2049His Congenital Severe to profound P – Zhang (2019)
Intron 27 IQ Motif c.6178-2A > G – Congenital Severe to profound P Pakistan Rehman (2016)
28 MyTH4 c.6217C > T p.Pro2073Ser Congenital Profound U Iran Shearer (2009)
29 MyTH4 c.6306_6307insG p.Ala2104Cysfs*18 – – – China Yang (2013)
29 MyTH4 c.6331A > T p.Asn2111Tyr Congenital Profound P Iran Wang (1998)
29 MyTH4 c.6337A > T p.Ile2113Phe Congenital Profound P Indonesia Wang (1998)
29 MyTH4 c.6340G > A p.Val2114Met – – P China Yang (2013)
30 MyTH4 c.6371G > A p.Arg2124Gln Congenital Mild and severe to profound/R L Iran Shearer (2009)
30 MyTH4 c.6437G > A p.Arg2146Gln Postlingual Mild and severe P and LP Korea; Iran Sloan-Heggen (2015), Woo (20,130
30 MyTH4 c.6436C > T p.Arg2146Trp – Mild U – Zhang (2019)
30 MyTH4 c.6487delG p.Ala2153Profs*100 Prelingual Mild to profound/R P and LP Japan Miyagawa (2015)
30 MyTH4 c.6589C > T p.Gln2197Ter – – P Pakistan Rehman (2016)
30 MyTH4 c.6614C > T p.Thr2205Ile Congenital Moderate U North America Liburd (2001)
31 MyTH4 c.6634G > A p.Glu2212Leu   Moderate U – Zhang (2019)
32 - c.6703 T > C p.Ser2235Pro Second decade/postlingual Moderate/R U Japan Miyagawa (2015)
31 - c.6731G > A p.Gly2244Glu Prelingual Severe to profound P and LP Pakistan, Japan Nal (2007), Miyagawa (2015)
Intron 32 - c.6764 + 2 T > A – – – P and LP Netherlands Sloan-Heggen (2015), Neveling (2013)
33 - c.6787G > A p.Gly2263Ser – – U – Sloan-Heggen (2015)
31 - c.6796G > A p.Val2266Met – Severe to profound U Pakistan, Turkey Nal (2007)
33 - c.6845A > G p.Tyr2282Cys – – U – Zhang (2019)
33 - c.6893G > A p.Arg2298Gln – – LP – Sloan-Heggen (2015)
Intron 33 - c.6956 + 9C > G – – – U – Yang (2013)
34 - c.7047del p.Tyr2350Thrfs*67 Congenital Profound P – Zhang (2019)
35 - c.7124_7127delACAG p.Asp2375Valfs*29 Prelingual progressive Severe P and LP Germany Vona (2014)
Intron 36 - c.7395 + 3G > C – – Severe to profound U Tunisia Belguith (2009), Riahi (2014)
35 - c.7207G > T p.Asp2403Tyr Congenital Profound P Palestinian Territories Shahin (2010)
36 - c.7226del p.Pro2409Glnfs*8 – – P Puerto Rico Sloan-Heggen (2015), Bademci (2016)
39 - c.7550C > G p.Thr2517Ser Congenital Mild moderate asymmetric U Iran Sloan-Heggen (2015)
39 - c.7636C > T p.Gln2546Ter Congenital Profound U – Zhang (2019)
40 - c.7679G > A p.Arg2560Gln – – U – Sloan-Heggen (2015)
40 - c.7708_7709insCA p.Gln2571Hisfs*35 Congenital Profound – China Zhang (2019)
39 SnAPC2 like c.7801A > T p.Lys2601Ter Congenital Profound P India Wang (1998)
41 - c.7822G > A p.Asp2608Asn Congenital Profound U China Zhang (2019)
42 - c.7894G > T p.Val2632Leu – – U – Bademci (2016)
41 SnAPC2 like c.7982C > A p.Ser2661Ter – – – Turkey Duman (2011)
43 - c.7990C > A p.Pro2664Thr – – LB – Zhang (2019)
43 - c.8033_8056del p.Asn2678Ter Congenital Severe – China Zhang (2019)
43   c.8050 T > C p.Tyr2684His Congenital Severe U – Zhang (2019)
44 FERM c.8077del p.Leu2693Cysfs*45 Congenital Mild to profound – China Zhang (2019)
44 FERM c.8090 T > C p.Val2697Ala Congenital Severe P – Zhang (2019)
46 FERM c.8148G > T p.Gln2716His Congenital Profound P Pakistan Liburd (2001)
43 FERM c.8158G > C p.Asp2720His – Moderate to profound P and LP Pakistan Nal (2007), Naz (2017)
43 - c.8183G > A p.Arg2728His Congenital – P and LP Jewish, China Yang (2013), Brownstein (2011)
43 - c.8198A > C p.Glu2733Ala Congenital Profound – Japan Miyagawa (2015)
45 - c.8222 T > C p.Phe2741Ser – – P – Zhang (2019)
Intron 45 - c.8224 + 3A > G splice site – – LP Pakistani Richard (2019)
46 - c.8309_8311del p.Glu2770del – – P and LP Turkey, Iran Sloan-Heggen (2015), Bademci (2016)
43 - c.8324G > A p.Arg2775His – – – China Yang (2013)
46 - c.8340G > A p. Thr2780Thr Congenital Profound P Israel Danial-Farran (2018)
47 - c.8375 T > C p.Val2792Ala – – P China Gao (2013)
47 FERM c.8445_8448delCCTG p.Val2815Valfs*10 Congenital Severe to profound P Iran Sarmadi (2020)
47 FERM c.8450G > A p.Arg2817His Congenital Mild to severe/R U China Gu (2015)
47 FERM c.8457C > G p.Tyr2819Ter – – P – Zhang (2019)
48 FERM c.8467G > A p.Asp2823Asn Congenital Moderate to profound/R P and LP Iran Fattahi (2012), Sloan-Heggen (2015)
49 SH3 c.8707C > T p.Arg2903Ter Congenital Profound U – Zhang (2019)
50 SH3 c.8725G > A p.Gly2909Ser Congenital Profound P – Zhang (2019)
48 SH3 c.8767C > T p.Arg2923Ter – – P and LP China Woo (2013)
50 SH3 c.8771G > A p.Arg2924His – Mild and severe LB – Zhang (2019)
50 SH3 c.8791del p.Trp2931Glyfs*103 Congenital Profound   China Zhang (2019)
51 SH3 c.8812G > A p.Gly2938Arg Congenital Mild moderate asymmetric U Iran Sloan-Heggen (2015)
49 SH3 c.8821_8822insTG p.Val2940fs*3034 Congenital Severe to profound – Pakistan Nal (2007)
49 SH3 c.8899dup p.Arg2967ProfsTer33 Congenital Profound – Germany Budde (2020)
49 SH3 c.8899C > T p.Arg2967Ter Congenital Profound – Germany Budde (2020)
Intron49 - c.8968-1G > C – – Profound P Turkey Kalay (2007)
52 - c.9083 + 6 T > A – Congenital Profound P Israel Danial-Farran (2018)
Intron53 - c.9229 + 1G > A – – Severe to profound – Tunisia Belguith (2009)
54 MyTH4 c.9221 T > C p.Met3074Thr – – U – Zhang (2019)
56 MyTH4 c.9316dupC p.H3106Pfs*2 Congenital Severe to profound P China Xia (2015)
57 MyTH4 c.9400C > T p.Arg3134Ter – – P – Zhang (2019)
57 MyTH4 c.9408G > C p.Trp3136Cys – – U – Zhang (2019)
57 MyTH4 c.9413 T > A p.Leu3138Gln Congenital or prelingual Moderate to Profound/ R P and LP Japan Miyagawa (2015)
59 MyTH4 c.9478C > T p.Leu3160Phe Congenital Severe to profound/ R U Pakistan; Japan Nal (2007), Miyagawa (2013), Miyagawa (2015)
57 MyTH4 c.9517G > A p.Gly3173Arg First decade/postlingual Mild to severe/R – Japan Miyagawa (2015)
58 MyTH4 c.9534C > G p.Cys3178Trp Congenital Severe to profound P – Zhang (2019)
58 MyTH4 c.9571C > T p.Arg3191Cys Congenital Severe to profound P China Zhou (2019)
58 MyTH4 c.9572G > A p.Arg3191His Congenital Severe to profound P – Zhang (2019)
57 MyTH4 c.9584C > G p.Pro3195Arg prelingual Moderate to severe – Iran Mehregan (2019)
Intron 58 MyTH4 c.9611_9612 + 8del TGGTGAGCAT p.Leu3204Cysfs*17 Congenital – P Iran Akbariazar (2019)
59 MyTH4 c.9620G > A p.Arg3207His – – U – Bademci (2016)
60 FERM c.9781A > T p.Asn3261Tyr – – U – Miyagawa (2013)
60 FERM c.9790C > T p.Gln3264Ter Postlingual, progressive Mild to severe/R – Korea Chang (2018)
61 FERM c.9908A > G p.Lys3303Arg – – U – Sloan-Heggen (2015)
65 FERM c.9958_9961delGACT p.Asp3320Thrfs*2 First decade Severe to profound P Brazil Lezirovitz (2008)
65 FERM c.9995_10002dupGCCGGCCC p.Ser3335Alafs*121 Congenital or prelingual Severe to profound P and LP Turkey Cengiz (2010)
63 FERM c.10181C > T p.Ala3394Val Congenital Severe to profound U – Zhang (2019)
63 FERM c.10202G > A p.Arg3401His Postlingual childhood Mild moderate P Iran Sloan-Heggen (2015)
64 FERM c.10245_10247delCTC p.Ser3417del Postlingual, progressive Severe/R P Korea Chang (2018), Miyagawa (2015)
64 FERM c.10249_10251delTCC p.Phe3417del Congenital Profound P Japan Miyagawa (2015)
64 FERM c.10258_10260del p.Phe3420del Congenital Profound P China Zhang (2019)
64 FERM c.10263C > G p.Ile3421Met 10–19 y/ Postlingual, progressive Moderate to severe/R U Japan/Korea Chang (2018), Miyagawa (2015)
65 FERM c.10394G > A p.Arg3465Gln – – U – Sloan-Heggen (2015)
66 FERM c.10474C > T p.Gln3492Ter – Severe to profound P Pakistan Nal (2007)
66 FERM c.10572dup p.Ser3525fs*79 – – P – Zhang (2019)
66 FERM c.10573delA p.Ser3525fs*29 Prelingual Severe to profound P Brazil Lezirovitz (2008)
  1. aR residual hearing of low frequencies, S steeply sloping to severe hearing loss
  2. bP pathogenic, LP likely pathogenic, LB likely benign, B benign, U unknown significance
  3. cConflicting interpretations of pathogenicity
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BMC Medical Genomics

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