Table 3.
Frequencies of 22 uncommon variants identified through resequencing of NTRK3 in 176 MDD cases
| Loc (Build 36.2) | Regionb,c | Variant | # of Heterozygotes (MAF) |
|---|---|---|---|
| 86 600 697 | 5′ of gene | G/T | 2 (0.006) |
| 86 600 687 | 5′ of gene | C/A | 1 (0.003) |
| 86 600 681 | 5′ of gene | G/C | 1 (0.003) |
| 86 600 601 | Exon 1 (5′UTR) | CGG repeatd | 2 (0.006) |
| 86 600 250 | Exon 2 | CGG→AGG (synonymous Arg) | 4 (0.011) |
| 86 577 488 | Intron 2 (cons 1) | A/G | 1 (0.003) |
| 86 528 357 | Intron 3 | C/T | 1 (0.003) |
| 86 489 484 | Intron 5 (cons 4) | G/A | 9 (0.026) |
| 86 489 409 | Intron 5 (cons 4) | T/C | 1 (0.003) |
| 86 480 234 | Exon 8 | ACG→ACA (synonymous Thr) | 1 (0.003) |
| 86 479 623 | Exon 9 | CGT→CAT (Arg→His)e | 1 (0.003) |
| 86 323 519 | Intron 13 (Exon 15 of NTRK3c-3′UTR) | T/C | 1 (0.003) |
| 86 323 054 | Intron 13 (Exon 15 of NTRK3c-3′UTR) | G/A | 1 (0.003) |
| 86 322 802 | Intron 13 (Exon 15 of NTRK3c-3′UTR) | C/A | 2 (0.006) |
| 86 314 079 | Intron 13 (cons 7) | C/T | 1 (0.003) |
| 86 313 972 | Intron 13 (cons 7) | C/T | 2 (0.006) |
| 86 313 902 | Intron 13 (cons 7) | C/T | 3 (0.009) |
| 86 284 909 | Exon 14 | GCC→GCT (synonymous Ala) | 1 (0.003) |
| 86 277 456 | Intron 14 | G/A | 8 (0.023) |
| 86 277 203 | Intron 15 | C/T | 2 (0.006) |
| 86 277 170a | Intron 15 | T/G | 16 (0.045) |
| 86 229 963 | Exon 17 | AAT→AGT (Asn→Ser)e | 1 (0.003) |
a
dbSNP ID rs1006046 (Genotype data from Hap Map project available at www.hapmap.org). All other variants are novel.
b
Regions are in reference to the NTRK3a transcript except where the NTRK3c transcript is specified.
c
“cons” refers to highly conserved regions that are numbered in accordance with their location beginning from the 5′ end of NTRK3.
d
Two cases were heterozygous for ‘CGG’ repeat alleles of length 4 and 8; all other subjects were homozygous for the 8-repeat allele.
e
These two nsSNP were also sequenced in controls, and no carriers were observed.