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Table 3 Presumably pathogenic DNA variants

From: Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Gene Nucleotide change Exon Amino acid change Protein domain Frequency in
USH alleles
(×/108)
Frequency in
control alleles
Patient origin
& reference
MYO7A        
  487G>C 6 G163R Motor head 1 0/306 Algeria [27]
  494C>T 6 T165M Motor head 1 0/306 Great Britain, France [58]
  803A>G 8 K268R Motor head 1 0/306 This study
  805_807delAAG 8 K269del Motor head 1 0/306 Italy, France [63]
  1370C>T 13 A457V Motor head 1 0/306 Ireland, France [63]
  3659C>T 29 P1220L MyTH4 (1) 1 0/666 This study
  3719G>A 29 R1240Q MyTH4 (1) 2 0/306 Denmark, Great Britain/France [62]
  5648G>A 41 R1883Q MyTH4 (2) 1 0/306 USA [58]
  5887_5889delTTC 43 F1963del FERM (2) 1   Europe, USA [24]
  6657T>C 48 L2186P FERM (2) 1 0/666 France [85]
USH1C        
  308G>A 4 R103H PDZ1 1 0/306 France [27]
  1069C>T 13 R357W Coiled-coil 1 0/498 This study
CDH23        
  2263C>T 20 H755Y cd7 1 0/306 USA [56]
  3178C>T 26 R1060W cd10 1 0/626 Europe [55]
  3565C>T 29 R1189W cd11 1 0/306 This study
  4136G>C 33 R1379P cd13 1 0/306 This study
  7916A>G 55 D2639G cd25 1 0/306 This study
  9127C>T 62 R3043W adjacent to TM
(extracellular)
1 0/490 This study
PCDH15        
  3817C>A 29 R1273S cd11 1 0/306 This study
USH1G        
  46C>G 1 L16V   1 0/666 This study
USH2A        
  653T>A 4 V218E Nter laminin 1 0/306 Great Britain [86]
  908G>A 6 R303H Nter laminin 1 0/306 USA [87]
  949C>A 6 R317R Nter laminin 1 0/306 Netherlands [60]
  1055C>T 6 T352I Nter laminin 1 0/306 Norway [28]
  1606T>C 9 C536R 1st laminin EGF-like 1 0/306 Denmark [81]
  1724G>A 10 C575Y 2nd laminin EGF-like 1 0/306 This study
  3902G>T 18 G1301V 14th FnIII 1 0/484 This study
  8254G>A 42 G2752R 3rd laminin EGF-like 1 0/306 Japan [88]
  9921T>G 50 C3307W 18th-19th FnIII 1 0/482 This study
  10712C>T 54 T3571M 20th FnIII 2 0/306 Spain [89]
  14426C>T 66 T4809I 33rd FnIII 1 0/306 Canada [90]
VLGR1        
  5830G>A 28 D1944N 13th -14th β-Calx 1 0/306 This study
  10196A>C 49 H3399P 4th EAR 1 0/306 This study
  14119G>T 70 D4707Y 32nd β-Calx 1 0/446 This study
  14654A>G 71 N4885S 32nd -33rd β-Calx 1 0/486 This study
  16377G>T 77 Q5459H 35th β-Calx 1 0/402 This study
WHRN        
  33C>G 1 S11R A/G/S rich region 1 0/494 This study
  1135C>T 4 R379W PDZ2 1 0/306 This study
  1. Novel mutations are in bold.