 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
 |
5' Gene flanking |
00 |
c.-4128C>T |
r.(?) |
p.(?) |
- |
Heterozygous |
UV1 - modifier: binds YY1 which reduces expression of MYO7A. Described in trans of a DFNA11 allele, increases the severity of the phenotype. |
rs10899353 |
Street et al., 2011 |
Modifier |
- |
- |
- |
+BccI;-BsmBI;-BceAI;-BsmAI; |
MYO7A_00357 |
5' UTR |
00 |
c.-272-2051C>T |
r.(=) |
p.(=) |
- |
Heterozygous |
UV1 |
- |
Le Quesne Stabej et al., 2012 |
Not Assessed |
0/96 controls |
- |
- |
+BfaI;+AvrII;+StyI;-PspGI;-BssKI;-ScrFI; |
MYO7A_00411 |
5' UTR |
00 |
c.-272-1986C>G |
r.(=) |
p.(=) |
- |
Heterozygous |
UV1 |
- |
Le Quesne Stabej et al., 2012 |
Not Assessed |
0/96 controls |
- |
- |
+MnlI;+HphI;-DdeI;-BspCNI;-AluI;-CviKI_1; |
MYO7A_00422 |
Exon |
01-37 |
c.-272-?_5168+213del |
r.(?) |
p.(?) |
Motor domain (1-729), IQ 1 (745-765), IQ 2 (768-788), IQ 3 (791-811), IQ 4 (814-834), IQ 5 (837-857), Coiled coil (858-935), MyTH4 1 (1017-1253), FERM 1 (1258-1602), SH3 (1603-1672) |
Heterozygous |
Pathogenic |
RFC1-37 |
Roux et al., 2011 |
- |
- |
- |
- |
- |
MYO7A_00125 |
Intron |
01i |
c.-46-2A>G |
r.(?) |
p.(?) |
- |
Heterozygous |
Pathogenic |
- |
Le Quesne Stabej et al., 2012 |
Pathogenic |
0/878 controls |
- |
HSF |
+AciI;-PstI;-HpyCH4V;-SfcI; |
MYO7A_00468 |
Intron |
01i |
c.19-1G>A |
r.? |
p.? |
- |
Heterozygous |
Pathogenic |
rs111033426 |
Bujakowska et al., 2014 |
- |
- |
- |
HSF |
- |
MYO7A_00535 |
Exon |
02 |
c.6_9dup (Reported 3 times) |
r.(?) |
p.(Leu4Aspfs*39) |
- |
Heterozygous |
Pathogenic |
- |
Jaijo et al., 2006 |
- |
- |
- |
HSF |
none |
MYO7A_00164 |
Intron |
02i |
c.19-2A>G |
r.(?) |
p.(?) |
- |
Heterozygous |
Pathogenic |
- |
Jacobson et al., 2009 |
- |
- |
- |
HSF |
- |
MYO7A_00214 |
Exon |
03 |
c.33G>A |
r.(?) |
p.(Trp11*) |
- |
Heterozygous |
Pathogenic |
- |
Weston et al., 1996 |
- |
- |
- |
HSF |
- |
MYO7A_00158 |
Exon |
03 |
c.47T>A |
r.(?) |
p.(Leu16*) |
- |
Heterozygous |
Pathogenic |
- |
Janecke et al., 1999 |
- |
- |
- |
HSF |
- |
MYO7A_00258 |
Exon |
03 |
c.47T>C (Reported 91 times) |
r.(?) |
p.(Leu16Ser) |
- |
Homozygous |
Neutral |
rs1052030 |
- |
- |
- |
USMA MSV3d |
HSF |
+BfuCI;+DpnII;+MboI;+Sau3AI;+DpnI; |
MYO7A_00031 |
Exon |
03 |
c.52C>T (Reported 17 times) |
r.(?) |
p.(Gln18*) |
- |
Homozygous |
Pathogenic |
- |
Zhou et al., 2012 |
Pathogenic |
- |
- |
HSF |
- |
MYO7A_00279 |
Exon |
03 |
c.54G>C |
r.(?) |
p.(Gln18His) |
- |
Heterozygous |
UV1 |
- |
Le Quesne Stabej et al., 2012 |
UV1 |
1/852 controls |
USMA MSV3d |
HSF |
+BssSI;+BaeGI;+Bsp1286I; |
MYO7A_00469 |
Exon |
03 |
c.73G>A (Reported 8 times) |
r.(?) |
p.(Gly25Arg) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Levy et al., 1997 |
- |
0/100 controls |
USMA MSV3d |
HSF |
none |
MYO7A_00134 |
Exon |
03 |
c.77C>A (Reported 6 times) |
r.(?) |
p.(Ala26Glu) |
- |
Heterozygous |
Pathogenic |
- |
Jaijo et al., 2007 |
- |
- |
USMA MSV3d |
HSF |
- |
MYO7A_00168 |
Exon |
03 |
c.93C>A (Reported 13 times) |
r.(?) |
p.(Cys31*) |
- |
Homozygous |
Pathogenic |
rs35689081 |
Janecke et al., 1999 |
- |
- |
- |
HSF |
+Hpy188I;+BsmAI;+DdeI;+BspCNI; |
MYO7A_00012 |
Intron |
03i |
c.133-7C>T (Reported 5 times) |
r.(=) |
p.(=) |
- |
Heterozygous |
UV1 |
rs111033221 |
Le Quesne Stabej et al., 2012 |
UV1 |
0/96 controls |
- |
HSF |
-FauI;-NlaIV; |
MYO7A_00382 |
Intron |
03i |
c.133-2A>G (Reported 4 times) |
r.(?) |
p.(?) |
- |
Heterozygous |
Pathogenic |
- |
Liu et al., 1997 |
- |
- |
- |
HSF |
+BstUI;+SacII;+BsaJI;+MspA1I;+BtgI; |
MYO7A_00200 |
Exon |
3 |
c.703T>G |
r.(?) |
p.(Tyr235Asp) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Bonnet et al., 2016 |
mutation |
- |
USMA MSV3d |
HSF |
- |
MYO7A_00586 |
Exon |
4 |
c.183delC (Reported 2 times) |
r.(?) |
p.(Thr62Argfs*9) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
rs782261543 |
Bonnet et al., 2016 |
mutation |
- |
- |
HSF |
- |
MYO7A_00557 |
Exon |
04 |
c.199G>A |
r.(?) |
p.(Val67Met) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Bharadwaj et al., 2000 |
- |
- |
USMA MSV3d |
HSF |
- |
MYO7A_00220 |
Exon |
04 |
c.223delG (Reported 5 times) |
r.(?) |
p.(Asp75Thrfs*31) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Weston et al., 1996 |
- |
- |
- |
HSF |
- |
MYO7A_00001 |
Exon |
04 |
c.223G>C |
r.(?) |
p.(Asp75His) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Le Quesne Stabej et al., 2012 |
UV4 |
0/878 controls |
USMA MSV3d |
HSF |
BaeGI;+BanI;+Bsp1286I;-EcoO109I;-BslI;-AvaII; |
MYO7A_00381 |
Exon |
04 |
c.252C>G (Reported 2 times) |
r.(?) |
p.(Asn84Lys) |
Motor domain (1-729) |
Homozygous |
UV3 |
- |
Riazuddin et al., 2008 |
- |
0/192 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00237 |
Exon |
4 |
c.262C>T |
r.(?) |
p.(Arg88Cys) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Bonnet et al., 2016 |
mutation |
- |
USMA MSV3d |
HSF |
- |
MYO7A_00593 |
Exon |
04 |
c.269G>C |
r.(?) |
p.(Arg90Pro) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Bharadwaj et al., 2000 |
- |
0/172 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00221 |
Exon |
04 |
c.284A>G |
r.(?) |
p.(Tyr95Cys) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Bujakowska et al., 2014 |
- |
- |
USMA MSV3d |
HSF |
- |
MYO7A_00531 |
Intron |
04i |
c.285+57C>T |
r.(=) |
p.(=) |
- |
Heterozygous |
UV1 |
- |
Le Quesne Stabej et al., 2012 |
Not Assessed |
0/96 controls |
- |
HSF |
+BccI;-MnlI; |
MYO7A_00451 |
Intron |
04i |
c.285+73C>T (Reported 14 times) |
r.(=) |
p.(=) |
- |
Heterozygous |
Neutral |
rs4074664 |
- |
- |
- |
- |
HSF |
- |
MYO7A_00290 |
Intron |
04i |
c.285+91C>A (Reported 2 times) |
r.(=) |
p.(=) |
- |
Homozygous |
Neutral |
- |
- |
- |
- |
- |
HSF |
- |
MYO7A_00065 |
Exon |
5 |
c.397dupC |
r.(?) |
p.(His133Profs*7) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
rs111033187 |
Bonnet et al., 2016 |
mutation |
- |
- |
HSF |
- |
MYO7A_00364 |
Exon |
05 |
c.288G>A (Reported 4 times) |
r.(?) |
p.(=) |
Motor domain (1-729) |
Heterozygous |
Neutral |
rs56023295 |
Le Quesne Stabej et al., 2012 |
Neutral |
14/874 controls |
- |
HSF |
-Hpy166II;-HpyCH4IV;-BstZ17I;-AccI; |
MYO7A_00393 |
Exon |
05 |
c.338_348dup |
r.(?) |
p.(Glu117Serfs*33) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Le Quesne Stabej et al., 2012 |
Pathogenic |
- |
- |
HSF |
+BccI |
MYO7A_00470 |
Exon |
05 |
c.358delC (Reported 2 times) |
r.(?) |
p.(Arg120Alafs*26) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Pennings et al., 2004 |
- |
- |
- |
HSF |
- |
MYO7A_00153 |
Exon |
05 |
c.359G>A |
r.(?) |
p.(Arg120His) |
Motor domain (1-729) |
Heterozygous |
UV2 |
- |
Le Quesne Stabej et al., 2012 |
UV1 |
0/878 controls |
USMA MSV3d |
HSF |
-EciI;-AciI; |
MYO7A_00454 |
Exon |
05 |
c.360delC |
r.(?) |
p.(Gln121Serfs*25) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Weston et al., 1996 |
- |
- |
- |
HSF |
- |
MYO7A_00148 |
Exon |
05 |
c.395C>T (Reported 3 times) |
r.(?) |
p.(Pro132Leu) |
Motor domain (1-729) |
Homozygous |
Pathogenic |
- |
Jaijo et al., 2007 |
- |
0/100 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00172 |
Exon |
05 |
c.397C>G |
r.(?) |
p.(His133Asp) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Roux et al., 2006 |
- |
0/352 controls |
USMA MSV3d |
HSF |
+BcgI |
MYO7A_00018 |
Exon |
05 |
c.397C>T (Reported 2 times) |
r.(?) |
p.(His133Tyr) |
Motor domain (1-729) |
Heterozygous |
UV3 |
rs111033403 |
Roux et al., 2011 |
- |
- |
USMA MSV3d |
HSF |
- |
MYO7A_00272 |
Exon |
05 |
c.397dup |
r.(?) |
p.(His133Profs*7) |
Motor domain (1-729) |
Heterozygous |
Pathogenic. Described as c.390_391insC. |
- |
Wei et al., 2012 |
Pathogenic |
0/200 controls |
- |
HSF |
none |
MYO7A_00478 |
Exon |
05 |
c.397dupC (Reported 3 times) |
r.(?) |
p.(His133Profs*7) |
Motor domain (1-729) |
Homozygous |
Pathogenic |
rs111033187 |
Bonnet et al., 2011 |
Pathogenic |
- |
- |
HSF |
none |
MYO7A_00364 |
Exon |
05 |
c.399dup (Reported 2 times) |
r.(?) |
p.(Ile134Hisfs*6) |
Motor domain (1-729) |
Homozygous |
Pathogenic |
- |
Riazuddin et al., 2008 |
- |
0/192 controls |
- |
HSF |
- |
MYO7A_00240 |
Exon |
05 |
c.401T>A |
r.(?) |
p.(Ile134Asn) |
Motor domain (1-729) |
Heterozygous |
UV3 |
rs111033181 |
Bharadwaj et al., 2000 |
- |
0/172 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00222 |
Exon |
05 |
c.448C>T (Reported 9 times) |
r.(?) |
p.(Arg150*) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
rs121965079 |
Levy et al., 1997 |
- |
- |
- |
HSF |
+PvuII;+DdeI;+BspCNI;+AluI;+MspA1I;-BcgI; |
MYO7A_00129 |
Exon |
05 |
c.462C>A (Reported 9 times) |
r.(?) |
p.(Cys154*) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Gao et al., 2014 |
mutation |
0/438 controls |
- |
HSF |
- |
MYO7A_00513 |
Intron |
05i |
c.470+1G>A (Reported 6 times) |
r.(?) |
p.(?) |
- |
Homozygous |
Pathogenic |
- |
Adato et al., 1997 |
- |
- |
- |
HSF |
- |
MYO7A_00192 |
Intron |
05i |
c.470+43T>C (Reported 2 times) |
r.(=) |
p.(=) |
- |
Heterozygous |
UV1 |
rs61899977 |
Le Quesne Stabej et al., 2012 |
Not Assessed |
0/96 controls |
- |
HSF |
+NlaIV;-BfaI; |
MYO7A_00389 |
Intron |
05i |
c.470+96C>T (Reported 3 times) |
r.(=) |
p.(=) |
- |
Homozygous |
Neutral |
rs55880704 |
- |
- |
- |
- |
HSF |
- |
MYO7A_00102 |
Intron |
05i |
c.471-1G>A (Reported 2 times) |
r.(?) |
p.(?) |
- |
Homozygous |
Pathogenic |
- |
Riazuddin et al., 2008 |
- |
0/192 controls |
- |
HSF |
- |
MYO7A_00247 |
Exon |
06 |
c.470G>A |
r.(?) |
p.(Ser157Asn) |
Motor domain (1-729) |
Heterozygous |
UV4 - was shown in Aparisi et al., 2013 to affect splicing (p.(Thr96Trpfs*29)) |
RFC06-06 |
Jaijo et al., 2006 |
Exon skipping (Aparisi et al., 2013) |
- |
USMA MSV3d |
HSF |
- |
MYO7A_00188 |
Exon |
06 |
c.472G>A |
r.(?) |
p.(Gly158Arg) |
Motor domain (1-729), ATP binding site (158-165) |
Heterozygous |
UV3 |
- |
Besnard, Garcia-Garcia et al., 2014 |
- |
- |
USMA MSV3d |
HSF |
-BtsI;-TspRI; |
MYO7A_00480 |
Exon |
06 |
c.487G>A (Reported 5 times) |
r.(?) |
p.(Gly163Arg) |
Motor domain (1-729), ATP binding site (158-165) |
Homozygous |
UV4 |
- |
Roux et al., 2006 |
- |
0/664 controls |
USMA MSV3d |
HSF |
+BstNI;+PspGI;-HpaII;-NciI;-MspI; |
MYO7A_00099 |
Exon |
06 |
c.487G>C (Reported 2 times) |
r.(?) |
p.(Gly163Arg) |
Motor domain (1-729), ATP binding site (158-165) |
Heterozygous |
UV4 |
- |
Roux et al., 2006 |
- |
0/664 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00073 |
Exon |
06 |
c.490A>T (Reported 2 times) |
r.(?) |
p.(Lys164*) |
Motor domain (1-729) |
Homozygous |
Pathogenic |
- |
Bonnet et al., 2011 |
Pathogenic |
- |
- |
HSF |
+Hpy166II;+AccI;-BbsI;-MboII; |
MYO7A_00363 |
Exon |
06 |
c.491A>G (Reported 2 times) |
r.(?) |
p.(Lys164Arg) |
Motor domain (1-729), ATP binding site (158-165) |
Homozygous |
UV3 |
- |
Roux et al., 2006 |
- |
0/664 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00067 |
Exon |
06 |
c.492G>C |
r.(?) |
p.(Lys164Asn) |
Motor domain (1-729), ATP binding site (158-165) |
Heterozygous |
UV3 |
- |
Jacobson et al., 2009 |
- |
- |
USMA MSV3d |
HSF |
- |
MYO7A_00204 |
Exon |
06 |
c.493A>G (Reported 2 times) |
r.(?) |
p.(Thr165Ala) |
Motor domain (1-729), ATP binding site (158-165) |
Heterozygous |
UV3 |
- |
Roux et al., 2011 |
- |
0/664 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00103 |
Exon |
06 |
c.494C>T (Reported 15 times) |
r.(?) |
p.(Thr165Met) |
Motor domain (1-729), ATP binding site (158-165) |
Heterozygous |
Pathogenic |
rs111033174 |
Roux et al., 2006 |
- |
0/664 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00078 |
Exon |
06 |
c.495G>A |
r.(?) |
p.(=) |
Motor domain (1-729) |
Heterozygous |
UV1 |
- |
Le Quesne Stabej et al., 2012 |
UV1 |
- |
- |
HSF |
none |
MYO7A_00459 |
Exon |
06 |
c.496delG (Reported 7 times) |
r.(?) |
p.(Glu166Argfs*5) |
Motor domain (1-729), ATP binding site (158-165) |
Homozygous |
Pathogenic |
rs111033448 |
Riazuddin et al., 2008 |
- |
0/192 controls |
- |
HSF |
- |
MYO7A_00235 |
Exon |
06 |
c.510G>A |
r.(?) |
p.(=) |
Motor domain (1-729) |
Heterozygous |
Neutral |
rs34477144 |
- |
- |
- |
- |
HSF |
- |
MYO7A_00077 |
Exon |
06 |
c.581_582delCC (Reported 2 times) |
r.(?) |
p.(Pro194Hisfs*14) |
Motor domain (1-729) |
Homozygous |
Pathogenic |
- |
Rong et al., 2014 |
causative |
0/200 controls |
- |
HSF |
- |
MYO7A_00516 |
Exon |
06 |
c.592G>A (Reported 2 times) |
r.[592g>a, 471_592del] |
p.[Ala198Thr, Gly158Ilefs*9] |
Motor domain (1-729) |
Heterozygous |
UV4 |
- |
Roux et al., 2006 |
E6 skipping (Le Guédard-Méreuze et al., 2010) |
0/664 controls |
- |
HSF |
-HpyAV |
MYO7A_00072 |
Intron |
06i |
c.592+1G>T (Reported 2 times) |
r.(?) |
p.(?) |
- |
Heterozygous |
Pathogenic |
- |
Jacobson et al., 2008 |
- |
- |
- |
HSF |
-HpyAV |
MYO7A_00252 |
Intron |
06i |
c.593-5C>T (Reported 3 times) |
r.(?) |
p.(?) |
- |
Heterozygous |
UV2 |
rs762666 |
- |
- |
- |
- |
HSF |
+PstI;+HpyCH4V;+SfcI;-AciI; |
MYO7A_00298 |
Exon |
07 |
c.610A>G |
r.(?) |
p.(Thr204Ala) |
Motor domain (1-729) |
Heterozygous |
UV4 |
- |
Roux et al., 2006 |
- |
0/352 controls |
USMA MSV3d |
HSF |
+PhoI;+HaeIII;+BsaJI;+StyI;+CviKI_1; |
MYO7A_00087 |
Exon |
07 |
c.616C>T (Reported 2 times) |
r.(?) |
p.(Arg206Cys) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Mao-Chang Su et al., 2009 |
- |
0/200 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00006 |
Exon |
07 |
c.617G>A |
r.(?) |
p.(Arg206His) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Mao-Chang Su et al., 2009 |
- |
0/200 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00007 |
Exon |
07 |
c.629C>G (Reported 2 times) |
r.(?) |
p.(Ser210*) |
Motor domain (1-729) |
Homozygous |
Pathogenic |
- |
Jaijo et al., 2006 |
- |
- |
- |
HSF |
- |
MYO7A_00162 |
Exon |
07 |
c.634C>T (Reported 8 times) |
r.(?) |
p.(Arg212Cys) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
rs121965080 |
Weston et al., 1996 |
- |
0/192 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00002 |
Exon |
07 |
c.635G>A (Reported 18 times) |
r.(?) |
p.(Arg212His) |
Motor domain (1-729) |
Homozygous |
Pathogenic |
rs28934610 |
Weston et al., 1996 |
- |
0/192 controls |
USMA MSV3d |
HSF |
-BceAI |
MYO7A_00004 |
Exon |
07 |
c.640G>A (Reported 19 times) |
r.(?) |
p.(Gly214Arg) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
rs111033283 |
Roux et al., 2011 |
- |
- |
USMA MSV3d |
HSF |
none |
MYO7A_00118 |
Exon |
07 |
c.652G>A (Reported 2 times) |
r.(?) |
p.(=) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Sun et al., 2011 |
Pathogenic |
0/200 controls |
USMA MSV3d |
HSF |
-TaqI |
MYO7A_00355 |
Exon |
07 |
c.652_657del (Reported 2 times) |
r.(?) |
p.(Asp218_Ile219del) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Levy et al., 1997 |
- |
- |
- |
HSF |
- |
MYO7A_00128 |
Exon |
07 |
c.655_660del (Reported 2 times) |
r.(?) |
p.(Ile219_His220del) |
Motor domain (1-729) |
Homozygous |
UV3 |
- |
Jaijo et al., 2007 |
Pathogenic |
0/100 controls |
- |
HSF |
- |
MYO7A_00174 |
Exon |
07 |
c.676G>A |
r.(?) |
p.(Ala226Thr) |
Motor domain (1-729) |
Heterozygous |
UV3 - Poster: Program Nr: 2263 from the 2000 ASHG Annual Meeting |
- |
Mena et al. |
- |
- |
USMA MSV3d |
HSF |
- |
MYO7A_00157 |
Exon |
07 |
c.687C>T |
r.(?) |
p.(?) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Besnard, Garcia-Garcia et al., 2014 |
- |
- |
- |
HSF |
-BstUI |
MYO7A_00490 |
Exon |
07 |
c.689C>T (Reported 11 times) |
r.(?) |
p.(Ala230Val) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Di Leva et al., 2006 |
- |
0/200 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00143 |
Exon |
07 |
c.700C>T (Reported 6 times) |
r.(?) |
p.(Gln234*) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
rs41298133 |
Levy et al., 1997 |
- |
- |
- |
HSF |
-MwoI;-AlwNI;-BstAPI; |
MYO7A_00131 |
Exon |
07 |
c.707T>A |
r.(?) |
p.(Leu236Gln) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Aparisi et al., 2014 |
UV3 |
- |
USMA MSV3d |
HSF |
- |
MYO7A_00524 |
Exon |
07 |
c.710T>G |
r.(?) |
p.(Leu237Arg) |
Motor domain (1-729) |
Heterozygous |
UV4 |
- |
Baux, Vaché et al., 2017 |
- |
- |
USMA MSV3d |
- |
- |
MYO7A_00599 |
Exon |
07 |
c.721C>A |
r.(?) |
p.(Arg241Ser) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Janecke et al., 1999 |
- |
0/60 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00253 |
Exon |
07 |
c.721C>G (Reported 14 times) |
r.(?) |
p.(Arg241Gly) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Jaijo et al., 2007 |
- |
0/100 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00170 |
Exon |
07 |
c.721C>T (Reported 4 times) |
r.(?) |
p.(Arg241Cys) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Bharadwaj et al., 2000 |
- |
0/172 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00223 |
Exon |
07 |
c.722G>A (Reported 3 times) |
r.(?) |
p.(Arg241His) |
Motor domain (1-729) |
Heterozygous |
UV3 |
rs111033284 |
Roux et al., 2011 |
- |
0/180 controls |
USMA MSV3d |
HSF |
+NspI;+FatI;+NlaIII;-HpyCH4IV;-PmlI;-BsaAI; |
MYO7A_00284 |
Exon |
07 |
c.722G>C (Reported 2 times) |
r.(?) |
p.(Arg241Pro) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Le Quesne Stabej et al., 2012 |
UV4 |
0/878 controls |
USMA MSV3d |
HSF |
+HphI;-HpyCH4IV;-PmlI;-AflIII;-BsaAI; |
MYO7A_00397 |
Exon |
07 |
c.726delC (Reported 2 times) |
r.(?) |
p.(Cys243Valfs*20) |
Motor domain (1-729) |
Homozygous |
Pathogenic - Assoc Res Otolaryngol Abs, p. 46, 1998 |
- |
Weston et al., 1998 |
- |
0/192 controls |
- |
HSF |
- |
MYO7A_00203 |
Exon |
07 |
c.731G>C (Reported 6 times) |
r.(?) |
p.(Arg244Pro) |
Motor domain (1-729) |
Homozygous |
Pathogenic |
rs121965081 |
Liu et al., 1997 |
- |
0/120 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00198 |
Intron |
07i |
c.735+46C>T |
r.(=) |
p.(=) |
- |
Heterozygous |
Neutral |
- |
- |
- |
- |
- |
HSF |
+BsmAI;+BsaI;-MnlI;-PhoI;-HaeIII;-Bsu36I; |
MYO7A_00085 |
Intron |
07i |
c.735+75G>A (Reported 2 times) |
r.(=) |
p.(=) |
- |
Homozygous |
Neutral |
- |
- |
- |
- |
- |
HSF |
- |
MYO7A_00268 |
Intron |
07i |
c.736-47C>A (Reported 6 times) |
r.(=) |
p.(=) |
- |
Heterozygous |
Neutral |
rs3737454 |
Besnard, Garcia-Garcia et al., 2014 |
- |
- |
- |
HSF |
-BseRI |
MYO7A_00095 |
Intron |
07i |
c.736-4ins12 |
r.(=) |
p.(=) |
- |
Heterozygous |
Neutral |
- |
- |
- |
- |
- |
HSF |
- |
MYO7A_00076 |
Exon |
08 |
c.755A>G |
r.(?) |
p.(Tyr252Cys) |
Motor domain (1-729) |
Heterozygous |
Pathogenic |
- |
Gerber et al., 2006 |
- |
0/200 controls |
USMA MSV3d |
HSF |
- |
MYO7A_00140 |
Exon |
08 |
c.783T>C (Reported 67 times) |
r.(?) |
p.(=) |
Motor domain (1-729) |
Heterozygous |
Neutral |
rs762667 |
- |
- |
- |
- |
HSF |
+FatI;+NlaIII;+CviAII; |
MYO7A_00047 |
Exon |
08 |
c.803A>G (Reported 2 times) |
r.(?) |
p.(Lys268Arg) |
Motor domain (1-729) |
Heterozygous |
UV2 |
- |
- |
- |
- |
USMA MSV3d |
HSF |
+MnlI;+EarI; |
MYO7A_00297 |
Exon |
08 |
c.805_807delAAG (Reported 3 times) |
r.(?) |
p.(Lys269del) |
Motor domain (1-729) |
Heterozygous |
UV3 |
- |
Bharadwaj et al., 2000 |
- |
- |
- |
HSF |
none |
MYO7A_00228 |
Exon |
08 |
c.834C>A (Reported 2 times) |
r.(?) |
p.(Tyr278*) |
Motor domain (1-729) |
Homozygous |
Pathogenic |
- |
Reddy et al., 2014 |
mutation |
- |
- |
HSF |
- |
MYO7A_00518 |
Intron |
08i |
c.849+7C>G |
r.(=) |
p.(=) |
- |
Heterozygous |
UV2 |
- |
Besnard, Garcia-Garcia et al., 2014 |
- |
- |
- |
HSF |
+BglI;+MwoI;+SfiI; |
MYO7A_00489 |
Intron |
08i |
c.850-127C>T (Reported 2 times) |
r.(=) |
p.(=) |
- |
Heterozygous |
UV1 |
- |
Le Quesne Stabej et al., 2012 |
Not Assessed |
0/96 controls |
- |
HSF |
+TspRI;-MwoI;-HinP1I;-HaeII;-HhaI; |
MYO7A_00398 |
Intron |
08i |
c.850-82T>C |
r.(=) |
p.(=) |
- |
Heterozygous |
UV1 |
- |
Le Quesne Stabej et al., 2012 |
Not Assessed |
0/96 controls |
- |
HSF |
+NlaIV;+BanII;+ApaI;+BaeGI;+PspOMI;+Bsp1286I; |
MYO7A_00417 |