Table 1.
Human HSD3B1 and HSD3B2 genetic polymorphisms. Polymorphism locations, alterations in nucleotide and amino acid sequences and frequencies of the polymorphisms observed are listed for each of the 4 ethnic groups studied. Data for exons are boxed. The table also indicates whether the polymorphism is presently represented in the HapMap or dbSNP. Polymorphisms in exons and UTRs have been numbered with respect to the “A” in the “ATG” translation initiation codon, with positive numbers located 3′- and negative numbers 5′to that position. The numbering scheme for nucleotides located within introns 5′and 3′ of the exons is based on their distance from splice junctions, using negative or positive numbers, respectively.
| Frequency of Variant Allele | Present in | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| No. | Location | Nucleotide | Sequence Change | Amino Acid Change | AA | CA | HCA | MA | Databases |
| HSD3B1 | |||||||||
| 1 | 5'FR | (−386) | C→T | 0.000 | 0.000 | 0.008 | 0.000 | no | |
| 2 | 5'FR | (−236) | T→C | 0.308 | 0.000 | 0.042 | 0.033 | yes | |
| 3 | Intron 1 | 48 | C→A | 0.033 | 0.000 | 0.000 | 0.000 | no | |
| 4 | Intron 2 | 56 | G→T | 0.175 | 0.000 | 0.042 | 0.025 | yes | |
| 5 | Intron 2 | (−22) | G→C | 0.000 | 0.000 | 0.008 | 0.000 | no | |
| 6 | Exon 3 | 166 | C→T | 0.026 | 0.000 | 0.000 | 0.000 | no | |
| 7 | Exon 3 | 228 | C→T | 0.319 | 0.000 | 0.042 | 0.025 | yes | |
| 8 | Exon 3 | 235 | A→G | Ile (79) Val | 0.331 | 0.000 | 0.042 | 0.033 | yes |
| 9 | Exon 3 | 270 | T→A | 0.314 | 0.000 | 0.042 | 0.025 | yes | |
| 10 | Exon 3 | 287 | C→T | Ser (96) Phe | 0.000 | 0.009 | 0.000 | 0.000 | no |
| 11 | Exon 4 | 724 | G→A | Asp (242) Asn | 0.000 | 0.000 | 0.017 | 0.000 | no |
| 12 | Exon 4 | 856 | T→C | Phe (286) Leu | 0.358 | 0.008 | 0.033 | 0.033 | yes |
| 13 | Exon 4 | 933 | T→C | 0.000 | 0.000 | 0.008 | 0.000 | no | |
| 14 | Exon 4 | 939 | G→A | 0.142 | 0.000 | 0.000 | 0.000 | no | |
| 15 | Exon 4 | 1012 | C→T | 0.117 | 0.388 | 0.608 | 0.608 | yes | |
| 16 | Exon 4 | 1017 | G→A | 0.017 | 0.000 | 0.000 | 0.008 | no | |
| 17 | Exon 4 | 1100 | A→C | Asn (367) Thr | 0.117 | 0.310 | 0.085 | 0.175 | yes |
| HSD3B2 | |||||||||
| 18 | 5'FR | (−541) | C→T | 0.025 | 0.008 | 0.000 | 0.000 | yes | |
| 19 | 5'UTR | (−194) | G→A | 0.000 | 0.033 | 0.000 | 0.000 | no | |
| 20 | 5'UTR | (−145) | G→A | 0.017 | 0.000 | 0.000 | 0.000 | no | |
| 21 | Intron 1 | 58 | T→G | 0.000 | 0.000 | 0.050 | 0.008 | yes | |
| 22 | Exon 3 | 220 | G→A | Asp (74) Asn | 0.042 | 0.000 | 0.000 | 0.000 | yes |
| 23 | Intron 3 | 31 | G→A | 0.008 | 0.000 | 0.000 | 0.000 | no | |
| 24 | Exon 4 | 549 | G→A | 0.008 | 0.000 | 0.000 | 0.000 | no | |
| 25 | Exon 4 | 777 | G→A | 0.034 | 0.000 | 0.000 | 0.000 | no | |
| 26 | Exon 4 | 1029 | C→T | 0.000 | 0.008 | 0.000 | 0.000 | no | |