Table 1 PLG variants identified in nine multi-ethnic families with otitis media.

From: Multi-omic studies on missense PLG variants in families with otitis media

ID

hg19 Position1

cDNA variant

Amino acid variant

rsID

Damaging prediction2

CADD

gnomAD MAF

UMN483, UMN4693, UHF183

161,127,501

c.112A > G

p.Lys38Glu

rs73015965

FA,MA,mLR,mSVM, MT,PP2,SI

19.0

NFE = 0.005, FIN = 0.0005

UHF48, UHF68, UHF116

161,137,790

c.782G > A

p.Arg261His

rs4252187

MA,MT,PP2,PR,SI

27.6

NFE = 0.004, FIN = 0.005

UMN483, UMN4693, PKOM18, UHF183, UMN5014a4

161,152,240

c.1414G > A

p.Asp472Asn

rs4252125

–

1.4

NFE = 0.29, SAS = 0.10, FIN = 0.26

UHF520

161,152,819

c.1481C > T

p.Ala494Val

rs4252128

MA, SI, PP2

26.8

NFE = 0.004,

FIN = 0.00004

UMN5014a4

161,162,369

c.2045 T > A

p.Ile682Asn

rs147175166

FA,MT,PP2,PR

23.3

NFE = 0.001

  1. CADD scaled combined annotation-dependent depletion score, FA FATHMM, FIN gnomAD finnish, gnomAD genome aggregation database, MA mutation assessor, MAF population-matched minor allele frequency, mLR MetaLR, mSVM MetaSVM, MT MutationTaster, NFE gnomAD non-Finnish European, PKOM Pakistani family; PP2 PolyPhen2 HVAR, PR PROVEAN, SAS gnomAD South Asian, SI SIFT, UHF Finnish family, UMN Minnesota family.
  2. 1mRNA accession number = NM_00301.
  3. 2Damaging prediction from bioinformatics tools in dbNSFP v.3.3a.
  4. 3Families UMN48, UMN469, and UHF18 have both the c.112A > G (p.Lys38Glu) and the c.1414G > A (p.Asp472Asn) variant. In two families UMN469 and UHF48, not all affected individuals carry the PLG variant. In one trio UHF18, one unaffected individual carries both variants.
  5. 4Family UMN5014a has both the c.1414G > A (p.Asp472Asn) and the c.2045 T > A (p.Ile682Asn) variant. Two unaffected individuals carry the c.1414G > A (p.Asp472Asn) variant.
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