Table 1.
PLG variants identified in nine multi-ethnic 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 |
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.
1mRNA accession number = NM_00301.
2Damaging prediction from bioinformatics tools in dbNSFP v.3.3a.
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.
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.