Table 2.
Variants in OTUD6B
| Families 1,2,3 | Family 4 | Family 5 | Family 6 | |
|---|---|---|---|---|
| Genomic position (hg19) | 8: 92,090,611 | 8: 92,090,647–92,090,651 | 8: 92,083,364 | 8: 92,090,825 |
| Exon/Intron | exon 4 | exon 4 | intron 1 | exon 4 |
| Nucleotide change | c.433C>T | c.469_473delTTAAC | c.173−2A>G | c.647A>G |
| Protein change | p.Arg145∗ | p.Leu157Argfs∗8 | – | p.Tyr216Cys |
| Allele Frequency in ExAC | ||||
| Total | 8/43,688 = 0.00018 | not present | not present | not present |
| Latino | 5/1,898 = 0.0026 | – | – | – |
| African | 1/4,386 = 0.000023 | – | – | – |
| South Asian | 2/8,864 = 0.000023 | – | – | – |
| Number of homozygotes | none | – | – | – |
| Allele Frequency in gnomAD | ||||
| Total | 32/239,902 = 0.00013 | not present | not present | not present |
| Latino | 25/31,718 = 0.00079 | – | – | – |
| African | 1/22,484 = 0.000044 | – | – | – |
| South Asian | 1/25,966 = 0.000039 | – | – | – |
| Number of homozygotes | none | – | – | – |
| SIFT | – | – | – | deleterious |
| PolyPhen2 | – | – | – | probably damaging |
Variant nomenclature is based on GenBank: NM_016023.3. Abbreviations are as follows: ExAC, Exome Aggregation Consortium; gnomAD, Genome Aggregation Database.