Table II. Sequence variations detected in the hPer3 gene.
| Region | Nucleotide | Amino acid |
|---|---|---|
| change | change | |
| Intron 1 | 128 + 22(G→A) | none |
| Exon 2 | 195(C→T) | none |
| Intron 6 | 794–20insT | none |
| Intron 6 | 794–15(T→G) | none |
| Intron 7 | 872 + 53(T→C) | none |
| Intron 8 | 980–16delTTA | none |
| Exon 11 | 1258(G→A) | V420M |
| Exon 11 | 1338(T→C) | none |
| Exon 15 | 1881(G→A) | none |
| Exon 15 | 1940(T→G) | V647G |
| Exon 17 | 2259(G→A) | none |
| Exon 17 | 2415(C→T) | none |
| Exon 17 | 2484(A→G) | none |
| Exon 17 | 2590(C→G) | P864A |
| Exon 17 | 2616(G→A) | none |
| Exon 18 | 2934(C→T) | none |
| Exon 18 | del(3031–3084 nt) | del(1011–1028 aa) |
| Exon 18 | 3110(T→C) | M1037T |
| Exon 20 | 3473(A→G) | H1158R |
| Intron 20 | 3549 + 19(G→A) | none |
To avoid complications, nucleotide and amino acid positions are numbered according to the full-length hPer3 cDNA sequence containing five copies of a 54 bp repeat (AB047686). The 3110(T→C) [M1037T] and the 3473(A→G)[H1158R] polymorphisms are estimated to be exclusively on a 4-repeat allele; therefore, actual nucleotide (nt) and amino acid (aa) positions relative to the putative initiation site are 3056 nt (1019 aa) and 3419 nt (1141 aa), respectively.