Table 1 KCNQ4 variants detected in individuals with autosomal dominant hearing loss.

From: Overlooked KCNQ4 variants augment the risk of hearing loss

Groupa

Individual

Sex

Age of onset (years)

Nucleotide changeb

Amino acid change

Exon

Zygosity

Amino acid sequence conservation

dbSNPc

ESPd

gnomADe

KRGDBf

PP2g

MTh

SIFTi

CADDj

DVDk

YUHL

YUHL37-21

M

Late 20 s

c.991 C > T

p.Arg331Trp

7/14

Het

Danio rerio

rs1178772384

ND

0

ND

Dam (1)

DC (1)

Del (0)

29.2

Unknown significance

YUHL206-21

F

Early 50 s

c.1339 C > T

p.Arg447Trp

10/14

Het

Gallus gallus

rs758333323

ND

0.0000335

ND

Dam (0.446)

Neu (0.98)

Del (0.02)

24.7

Unknown significance

YUHL261-21

F

Early 10 s

c.1304del

p.Gly435AlafsTer61

10/14

Het

Xenopus tropicalis

ND

ND

ND

ND

ND

ND

ND

ND

ND

YUHL450-21

F

Early 60 s

c.1258 C > T

p.Arg420Trp

9/14

Het

Mus musculus

rs576041348

ND

0.0001813

0.00136364

Dam (0.548)

DC (0.9)

Del (0.02)

24.8

Unknown significance

YUHL463-21

M

Early 30 s

c.992 G > A

p.Arg331Gln

7/14

Het

Danio rerio

rs1408578386

ND

0.000004102

ND

Dam (0.992)

DC (1)

Del (0)

29.6

Unknown significance

YUHL493-21

F

Early 40 s

c.316 T > G

p.Phe106Val

1/14

Het

Danio rerio

rs189892658

ND

0.00007615

0.000454545

Dam (0.968)

DC (1)

Del (0)

25.3

Unknown significance

YUHL512-21

M

Early 50 s

c.2014 G > A

p.Val672Met

14/14

Het

Xenopus tropicalis

rs754076761

ND

0.00007961

ND

Dam (0.736)

DC (0.9)

Del (0.04)

25.2

Pathogenic

YUHL556-21

M

Early 50 s

c.140 T > C

p.Leu47Pro

1/14

Het

Danio rerio

rs1271250198

ND

ND

ND

Ben (0.003)

DC (1)

Del (0.03)

22.6

Pathogenic

YUHL608-21

F

Late 10 s

c.140 T > C

p.Leu47Pro

1/14

Het

Danio rerio

rs1271250198

ND

ND

ND

Ben (0.003)

DC (1)

Del (0.03)

22.6

Pathogenic

  1. Ben benign, Dam probably damaging, Del deleterious, DC disease-causing, Het heterozygous in the affected individual, F female, M male, ND no data or DNA not available, Neu neutral.
  2. aGroup indicates cohorts in which individuals with variants were found, comprising one case cohort (YUHL).
  3. bVariants are numbered according to the human cDNA reference sequence NM_004700.4 (KCNQ4).
  4. cdbSNP database (http://www.ncbi.nlm.nih.gov/SNP).
  5. dExome Sequencing Project (https://evs.gs.washington.edu/EVS/).
  6. ePopulation frequency of KCNQ4 variants in gnomAD (https://gnomad.broadinstitute.org/).
  7. fThe Korean Reference Genome Database (http://coda.nih.go.kr/coda/KRGDB/index.jsp).
  8. gPolyPhen-2 HumVar prediction score (http://genetics.bwh.harvard.edu/pph2/).
  9. hMutationTaster (http://www.mutationtaster.org/).
  10. iSIFT Sorting Intolerant from Tolerant (http://sift.jcvi.org/).
  11. jphred-like scores (scaled C-scores) on the Combined Annotation-Dependent Depletion (http://cadd.gs.washington.edu/home/).
  12. kDeafness variation database (https://deafnessvariationdatabase.org/).
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