Table 2.
Distribution of PDYN gene variants in control subjects
Variant # |
Variant ID | Location on chr 20* | PDYN gene location |
Variation | Minor allelic frequency | |
---|---|---|---|---|---|---|
Caucasian n=65 |
African American n=76 |
|||||
1 | rs1997794 | 1922858 | Promoter | A/G** | 0.32 | 0.22 |
2 | rs6045819 | 1909134 | Exon 4 | T>C*** | 0.07 | 0.28 |
3 | rs10485703 | 1908313 | Exon 4-3′UTR | T>C | 0.06 | 0.16 |
4 | rs910080 | 1908226 | Exon 4-3′UTR | T>C | 0.21 | 0.43 |
5 | rs910079 | 1908198 | Exon 4-3′UTR | T>C | 0.21 | 0.46 |
6 | rs2235749 | 1907939 | Exon 4-3′UTR | C>T | 0.21 | 0.46 |
- Variant location from dbSNP database (NCBI), Genome Build 36.3
- G is a minor allele in Caucasians; it is a major allele in African Americans
- A synonymous mutation in the codon for the amino acid His200