Table 1.
Family structure, ethnicity, and molecular data of ascertained ADAR1 mutation-positive cases
| AGS number |
Individuals tested |
Consanguinity | Ethnicity | cDNA | Protein | Allelic status |
Inheritance | SIFT | Polyphen2 | CADD Phred |
ExAc frequency |
gnomAD frequency |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGS081 | 3A, M, F | No | White European | c.577C>G | p.Pro193Ala | Het | Maternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2675G>A | p.Arg892His | Het | Paternally inherited | Deleterious 0.01 | Probably damaging 1.000 | 35 | Novel | 1/252010 | ||||
| AGS093 | 1A, M, F | No | Italian | c.577C>G | p.Pro193Ala | Het | Paternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2608G>A | p.Ala870Thr | Het | Maternally inherited | Deleterious 0 | Probably damaging 1.000 | 34 | Novel | Novel | ||||
| AGS107 | 2A, M, F | Yes | Pakistani | c.3337G>C | p.Asp1113His | Hom | Both parents het | Deleterious 0.02 | Probably damaging 1.000 | 33 | Novel | Novel |
| AGS150 | 1A, M, F | No | Brazilian | c.3019G>A | p.Gly1007Arg | Het | De novo (paternity confirmed) | Deleterious 0 | Probably damaging 1.000 | 34 | Novel | Novel |
| AGS219 | 1A | Yes | Pakistani | c.3335A>T | p.Tyr1112Phe | Hom | Not tested | Tolerated 0.17 | Probably damaging 1.000 | 33 | Novel | Novel |
| AGS228 | 1A, M, F | No | Indian | c.2997G>T | p.Lys999Asn | Hom | Both parents het | Deleterious 0.03 | Probably damaging 1.000 | 34 | Novel | Novel |
| AGS251 | 1A, M, F | No | White European | c.577C>G | p.Pro193Ala | Het | Maternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2615T>C | p.Ile872Thr | Het | Paternally inherited | Deleterious 0.01 | Probably damaging 1.000 | 26.9 | 1/121342 | 1/252270 | ||||
| AGS327 | 1A, M, F | No | Italian/ Hispanic | c.577C>G | p.Pro193Ala | Het | Maternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.1076_1080del | p.Lys359Argfs*14 | Het | Paternally inherited | Frameshift | Frameshift | Frameshift | Novel | Novel | ||||
| AGS430 | 2A, M, F | No | Spanish | c.577C>G | p.Pro193Ala | Het | Maternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2675G>A | p.Arg892His | Het | Paternally inherited | Deleterious 0.01 | Probably damaging 1.000 | 35 | Novel | 1/252010 | ||||
| AGS474 | 1A, M, F | No | White European | c.3019G>A | p.Gly1007Arg | Het | De novo (paternity confirmed) | Deleterious 0 | Probably damaging 1.000 | 34 | Novel | Novel |
| AGS530 | 2A, M | No | White European | c.3019G>A | p.Gly1007Arg | Het | Presumed inherited from asymptomatic Father | Deleterious 0 | Probably damaging 1.000 | 34 | Novel | Novel |
| AGS550 | 1A, M, F | No | White European | c.577C>G | p.Pro193Ala | Het | Paternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2565_2568del | p.Asn857Alafs*17 | Het | Maternally inherited | Frameshift | Frameshift | Frameshift | Novel | 1/30224 | ||||
| AGS567 | 1A, M, F | No | Greek/ Lebanese | c.518A>G | p.Asn173Ser | Het | Paternally inherited | N/A | Probably damaging 0.999 | 24.3 | 34/121366 | 144/282658 1 hom |
| c.2515del | p.Thr839Profs*6 | Het | Maternally inherited | Frameshift | Frameshift | Frameshift | Novel | Novel | ||||
| AGS582 | 1A | No | White European | c.577C>G | p.Pro193Ala | Het | Not known | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2647_2648dup | p.Val884Serfs*12 | Het | Not known | Frameshift | Frameshift | Frameshift | Novel | Novel | ||||
| AGS663 | 2A, M, F | No | White European | c.577C>G | p.Pro193Ala | Het | Paternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.1630C>T | p.Arg544* | Het | Maternally inherited | Stop | Stop | Stop | Novel | 2/252366 | ||||
| AGS679 | 1A | No | White European | c.577C>G | p.Pro193Ala | Het | Not known | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.3556A>G | p.Lys1186Glu | Het | Not known | Tolerated 0.11 | Probably damaging 0.999 | 31 | Novel | Novel | ||||
| AGS699 | 1A, M, F | No | White European | c.3019G>A | p.Gly1007Arg | Het | De novo (genotyping not undertaken) | Deleterious 0 | Probably damaging 1.000 | 34 | Novel | Novel |
| AGS703 | 1A | No | Asian/ White European | c.577C>G | p.Pro193Ala | Het | Not known | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.3100A>G | p.Met1034Val | Het | Not known | Deleterious 0.03 | Possibly damaging 0.760 | 25.8 | Novel | Novel | ||||
| AGS720 | 1A, M, F | No | White European | c.577C>G | p.Pro193Ala | Het | Maternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2250del | p.Gly751Aspfs*42 | Het | De novo (genotyping not undertake n) | Frameshift | Frameshift | Frameshift | Novel | Novel | ||||
| AGS759 | 1A, M, F | No | White European | c.577C>G | p.Pro193Ala | Het | Paternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2902G>A | p.Asp968Asn | Het | Maternally inherited | Tolerated 0.06 | Probably damaging 1.000 | 34 | Novel | Novel | ||||
| AGS765 | 1A | No | White European | c.577C>G | p.Pro193Ala | Het | Not known | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.556C>T | p.Gln186* | Het | Not known | Stop | Stop | Stop | Novel | Novel | ||||
| AGS788 | 1A, M, F | No | White European | c.577C>G | p.Pro193Ala | Het | Maternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.1386_1390del | p.Asp462Glufs*2 | Het | De novo (paternity confirmed) | Frameshift | Frameshift | Frameshift | Novel | Novel | ||||
| AGS810 | 1A, MA, F | No | White European | c.3019G>A | p.Gly1007Arg | Het | Inherited from symptomatic mother | Deleterious 0 | Probably damaging 1.000 | 34 | Novel | Novel |
| AGS943 | 1A, M, F | No | North African | c.3019G>A | p.Gly1007Arg | Het | De novo (genotyping not undertaken) | Deleterious 0 | Probably damaging 1.000 | 34 | Novel | Novel |
| AGS1115 | 1A, M, F | Yes | Persian | c.2997G>T | p.Lys999Asn | Hom | Both parents het | Deleterious 0.03 | Probably damaging 1.000 | 34 | Novel | Novel |
| AGS1170 | 1A | No | Asian | c.577C>G | p.Pro193Ala | Het | Not known | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.3100A>G | p.Met1034Val | Het | Not known | Deleterious 0.03 | Possibly damaging 0.760 | 25.8 | Novel | Novel | ||||
| AGS1315 | 2A, M, F (mosaic) | No | White European | c.3019G>A | p.Gly1007Arg | Het | Father mosaic | Deleterious 0 | Probably damaging 1.000 | 34 | Novel | Novel |
| AGS1456 | 1A | No | White European | c.577C>G | p.Pro193Ala | Het | Not known | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.3020–3C>G | Splicing | Het | Not known | Splicing | Splicing | Splicing | Novel | Novel | ||||
| AGS1507 | 1A, M, F | No | Asian/ White European | c.577C>G | p.Pro193Ala | Het | Maternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2763–2A>G | Splicing | Het | Paternally inherited | Splicing | Splicing | Splicing | Novel | Novel | ||||
| AGS1537 | 1A | No | White European | c.3019G>A | p.Gly1007Arg | Het | Not known | Deleterious 0 | Probably damaging 1.000 | 34 | Novel | Novel |
| AGS1542 | 2A, M, F | Yes | Asian | c.3335A>T | p.Tyr1112Phe | Hom | Both parents het | Tolerated 0.17 | Probably damaging 1.000 | 33 | Novel | Novel |
| AGS1824 | 1A | No | White European | c.577C>G | p.Pro193Ala | Het | Paternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.1084_1085del | p.Arg362Aspfs*12 | Het | Maternally inherited | Frameshift | Frameshift | Frameshift | Novel | Novel | ||||
| AGS1980 | 1A | No | White European | c.577C>G | p.Pro193Ala | Het | Not known | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2130dupC | p.Asn711Glnfs*33 | Het | Not known | Frameshift | Frameshift | Frameshift | Novel | Novel | ||||
| AGS1989 | 1A, M, F | No | South American | c.577C>G | p.Pro193Ala | Het | Paternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2187_2198delinsGT | p.Gly730Cysfs*60 | Het | Maternally inherited | Frameshift | Frameshift | Frameshift | Novel | Novel | ||||
| AGS2007 | 1A | No | White European | c.577C>G | p.Pro193Ala | Het | Not known | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.982C>T | p.Arg328* | Het | Not known | Stop | Stop | Stop | Novel | 1/252210 | ||||
| AGS2009 | 1A, M, F | No | White European | c.577C>G | p.Pro193Ala | Het | Paternally inherited | Deleterious 0 | Probably damaging 1.000 | 23.9 | 260/ 121402 | 602/282636 1 hom |
| c.2746C>T | p.Arg916Trp | Het | Maternally inherited | Deleterious 0 | Probably damaging 1.000 | 35 | Novel | Novel | ||||
| AGS2010 | 1A, M | No | Hispanic | c.3019G>A | p.Gly1007Arg | Het | M WT, F not tested | Deleterious 0 | Probably damaging 1.000 | 34 | Novel | Novel |
Abbreviations: A, affected; F, father; Het, heterozygous; Hom, homozygous; M, mother; MA, mother affected; WT, wild type.
Note: Nucleotide numbering based on transcript ADAR1 NM_001111.4. ExAc browser Beta version accessed on October 28, 2016 (http://exac.broadinstitute.org), gnomAD browser β version accessed on October 28, 2016 (http://gnomad.broadinstitute.org).