Phenotype | Individual ID | Family ID | Sex | Race | Ethnicity | Location | Amino acid | Nucleotide position* | chrl | Protein prediction | Conservation‡ | Transmission | Autism frequency† | Control frequency† | Sibling status | Sequence context (neg.stand, 5′→3′) |
Autism | HI2273 | AU0379-04 | Female | White | Not Hispanic or Latino | 5′UTR | NA | 23661 G>A | chrl:40880225 | NA | Conserved | Undetermined | 1/402 | 0/399 | DNA unavailable | GATTCATCCA[G/A]GTCTGATGTG |
Autism | HI2183 | AU0783-04 | Male | More than one | Not Hispanic or Latino | Exon 1 | p.N3H | 80346 | chrl:40880176 | NA | Conserved | Maternal | 1/404 | 0/399 | Absent in one affected sibling (AU0783-05) | CCATGTTTAA[C/T]GGGGAGCCAG |
Autism | HI2536 | AU09343-01 | Male | White | Hispanic or Latino | Intron 3 | NA | 32619 G>C | chrl:40871297 | NA | Conserved | Paternal | 1/444 | 0/458 | Present in one affected sibling (AU0934-302) | GTTGAGTGGG[G/C]TAATGGTGAC |
Autism | HI0515 | AU0247-03 | Male | White | Not Hispanic or Latino | Exon 4 | p.E177A | 92948 | chrl:40867574 | Not tolerated | Conserved | Maternal | 1/453 | 0/1161 | Present in one NQA sibling (AU0247-04) | GAAGTGATTG[A/C]AGCTCGGGGC |
Autism | H11965 | AU0679-03 | Male | White | Not Hispanic or Latino | Exon 5 | p.A207T | 93358 | chrl:40867164 | Tolerated | Highly conserved | Paternal | 1/451 | 0/459 | Absent in one affected sibling (AU0679-03) | GGCCTGCTTG[G/A]CCAAGAAGAA |
Autism | HI0686 | AU0125-04 | Female | White | Not Hispanic or Latino | Exon 6 | p.M260V | 95597 | chrl:40864925 | Tolerated | Conserved | Paternal | 1/432 | 0/459 | Present in one affected sibling (AU0125-3) | GGCCCAGATC[A/C]TGCTGGACGA |
Autism | HI2305 | AU0841 | Male | Black or AA | Not Hispanic or Latino | Exon 6 | p.S267S | 95620 | chrl:40864902 | NA | Highly conserved | Maternal | 1/432 | 0/459 | Absent in one affected (AU0841-05) and one unaffected (AU0841-03) sibling; present in one unaffected sibling (AU0841-06) | TGGACCTCAG[C/T]GCCGCGGTCA |
Control | 05C51058 | – | Male | Black of A A | Unknown | Intronic | NA | 23622 C>T | chrl:40880294 | NA | Not conserved | 0/440 | 1/460 | – | CCCAAGGTCA[C/T]GCAGCTAGGA | |
Control | 05C41407 | – | Male | White | Unknown | Exon 2 | R84R | 86240 | chrl:40874282 | NA | Highly conserved | 0/440 | 1/460 | – | GCAACATCCG[C/T]CGGAGCACGG | |
Control | 05C51267 | – | Male | White | Unknown | Exon 2 | R85R | 86243 | chrl:40874279 | NA | Highly conserved | 0/440 | 1/460 | – | ACATCCGCCG[G/C]AGCACGGAGA | |
Control | 05C42678 | – | Male | White | Unknown | Exon 2 | T120M | 86347 | chrl:40874175 | Not tolerated | Highly conserved | 0/440 | 1/460 | – | TCCGACGGCA[C/T]GTGCGTGCAG | |
Control | 05C43397 | – | Male | White | Unknown | Exon 4 | 1162V | 92902 | chrl:40867620 | Tolerated | Highly conserved | 0/453 | 1/460 | – | AGATGTGCA[A/G]TTGCCATCAT |
↵* Based on AL031289.
↵† Number of individuals, not chromosomes.
↵‡ Four species were compared (human, rhesus macaque, mouse, and pufferfish (Fugu)). Conservation is described at the amino acid and nucleotide levels for coding and non-coding variants. Highly conserved, conserved across all four species; Conserved, conserved between human, rhesus, and mouse; Not conserved, conserved only between human and macaque or human only.