Table 1.
KCNQ4 variants detected in individuals with autosomal dominant 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 |
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.
aGroup indicates cohorts in which individuals with variants were found, comprising one case cohort (YUHL).
bVariants are numbered according to the human cDNA reference sequence NM_004700.4 (KCNQ4).
cdbSNP database (http://www.ncbi.nlm.nih.gov/SNP).
dExome Sequencing Project (https://evs.gs.washington.edu/EVS/).
ePopulation frequency of KCNQ4 variants in gnomAD (https://gnomad.broadinstitute.org/).
fThe Korean Reference Genome Database (http://coda.nih.go.kr/coda/KRGDB/index.jsp).
gPolyPhen-2 HumVar prediction score (http://genetics.bwh.harvard.edu/pph2/).
hMutationTaster (http://www.mutationtaster.org/).
iSIFT Sorting Intolerant from Tolerant (http://sift.jcvi.org/).
jphred-like scores (scaled C-scores) on the Combined Annotation-Dependent Depletion (http://cadd.gs.washington.edu/home/).
kDeafness variation database (https://deafnessvariationdatabase.org/).