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Table 1 Pathogenic sequence variants identified in this study

From: Screening mutations of OTOFgene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy

Exon

DNA level

Protein level

Consequence

Subject

Age of Onset (year)

Control chromo-some

13

c.1194 T > A

p.D398 E

Missense

0501207

19

0/184

16

c.1740delC

p.S581PfsX40

Frameshift

0501800

0

0/184

16

c.1780 G > A

p.E594K

Missense

0501768

12

0/184

25

c.2975_2978

p.Q994VfsX6

Frameshift

0400695

1

0/184

 

delAG

     

40

c.4819C > T

p.R1607W

Missense

0400695

1

0/184

  1. *Nomenclature of mutations is based on GenBank reference sequence accession number NM_194248.1. The nucleotide 1 is its first nucleotide of the translation initiation codon.
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BMC Medical Genetics

ISSN: 1471-2350

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