Table 3.
TD of Multiple Coding and Noncoding Alleles at SLC6A4[Note]
|
No. of Transmissions to |
No. of Autistic |
|||||||
| Location anddbSNP Number | Positiona | Protein | No. of Families | All Affected Individualsb | All but Probandc | No. of NT | Males | Females |
| Exon 1b: | ||||||||
| ss38318598 | c.147C→A | 5′ UTR | 2 | 4 | 2 | 1 | 3 | 1 |
| Exon 2: | ||||||||
| rs6355 | c.462G→C | Gly56Alad | 7 | 15 | 8 | 5 | 11 | 4 |
| Exon 9: | ||||||||
| ss38318599 | c.1568A→C | Ile425Leu | 1 | 2 | 1 | 0 | 2 | 0 |
| Exon 10: | ||||||||
| ss38318600 | c.1688T→C | Phe465Leu | 1 | 2 | 1 | 1 | 1 | 1 |
| Exon 12: | ||||||||
| ss38318601 | c.1943G→C | Leu550Val | 1 | 2 | 1 | 0 | 2 | 0 |
| Exon 13: | ||||||||
| rs6352 | c.2110A→C | Lys605Asn | 1 | 0 | 0 | 2 | 0 | 0 |
| Exon 14: | ||||||||
| rs13306796 | c.2516A→G | 3′ UTR | 1 | 2 | 1 | 0 | 2 | 0 |
| Promoter: | ||||||||
| ss38318589 | g.15622G→A | NA | 1 | 1 | 0 | 1 | 1 | 0 |
| rs2020932 | g.14519A→T | NA | 3 | 8 | 5 | 0 | 6 | 0 |
| ss38318590 | g.14289A→C | NA | 1e | 1 | 0 | 1 | 1 | 0 |
| rs25533 | g.13912T→C | NA | 1 | 4 | 3 | 0 | 2 | 0 |
| ss38318591 | g.13754C→T | NA | (1)f | (1) | (0) | (1) | (1) | (0) |
| Intron 1a: | ||||||||
| ss38318592 | IVS1a+20C→T | NA | 1 | 1 | 0 | 0 | 1 | 0 |
| ss38318593 | IVS1a+133G→A | NA | 1 | 1 | 0 | 0 | 1 | 0 |
| hcv11414117 | IVS1a−47G→C | NA | 5 | 10 | 5 | 2 | 8 | 2 |
| hcv11414114 | IVS1a−25G→A | NA | 4 | 9 | 5 | 0 | 7 | 2 |
| Intron 1b: | ||||||||
| ss38318594 | IVS1b+28G→A | Gly56Alag | 3 | NA | NA | NA | NA | NA |
| Intron 6: | ||||||||
| ss38318595 | IVS6−44G→C | NA | 1 | 2 | 1 | 0 | 2 | 0 |
| Intron 7: | ||||||||
| ss38318596 | IVS7+83C→T | NA | 4 | 9 | 5 | 0 | 9 | 2 |
| Intron 8: | ||||||||
| ss38318597 | IVS8−33C→T | NA | 2 | 4 | 2 | 0 | 4 | 0 |
| Total | 31 | 76 | 40 | 12 | 63 | 12 | ||
Note.— NA=not applicable.
Changes in the cDNA are indicated relative to the GenBank SLC6A4 reference sequence (accession number NM_001045); genomic variants are designated by +1 corresponding to the initiating ATG or position within an intron.
Transmissions to all affected individuals, including the proband in whom the variant was first identified (T:NT=76:12; χ2=26.82; 1 df; P=2.2×10-7).
Transmissions excluding the screened proband in whom the variant was initially identified (T:NT=39:12; χ2=8.13; 1 df; P=.0042).
Four 56Ala NTs derive from two heterozygous couples transmitting only one 56Ala allele to affected children.
Redundant transmissions are not counted toward total transmissions.
Family does not contribute to linkage; corresponding counts are not included in the totals.
IVS1b+28G→A lies on the Gly56Ala allele; therefore, to avoid redundancy, transmission was not considered.