Table 3.
Variants Identified in the Human HCN2 Gene
| Location | Nucleotide | Amino acid | dbSNP | Frequency of minor allele in: | |
|---|---|---|---|---|---|
| Patients n=84 | Controls n=50 | ||||
| Nonsynonymous | |||||
| Exon 5 | c.1580G>A | p.R527Q | ss73757987 | 0.61 | 0.02 |
| Exon 8 | c.2155_2163delCCGCC | p.P719_P72 | ss73758064 | 0.6 | 2.0 |
| GCCG | 1del | ||||
| Synonymous and intronic variants | |||||
| Exon 2 | c.714T>C | p.D238D | ss73757943 | 15.23 | 13.0 |
| c.723T>C | p.T241T | ss73757945 | 15.23 | 13.0 | |
| c.[858T>C; 915C>T; c.963C>T] | p.[Y286Y; F305F; R321R] | ss73757984; ss73757947; ss73757951 | 15.93 | 12.0 | |
| c.921C>T | p.I307I | ss73757949 | 12.23 | 9.4 | |
| Intron 2 | c.1056+55G>A | NA | rs10409268 | 49.43 | 48.0 |
| c.1056+80C>T | NA | rs12973067 | 3.13 | 8.3 | |
| Exon 3 | c.1086C>T | p.S362S | ss73757968 | 5.9 | ND |
| c.1089G>A | p.A363A | ss73757970 | 5.9 | ND | |
| c.1167T>C | p.P389P | rs12981860 | 33.0 | ND | |
| Intron 3 | c.1218+33C>T | NA | rs12977789 | 24.1 | ND |
| c.1219-23C>T | NA | ss73757972 | 0.6 | ND | |
| Exon 4 | c.1239G>C | p.L413L | rs3752158 | 5.9 | ND |
| Intron 4 | c.1438-16C>G | NA | ss73757974 | 11.2 | ND |
| Exon 5 | c.1452G>A | p.E484E | ss73757976 | 11.8 | ND |
| Intron 5 | c.1584+7C>T | NA | ss73757990 | 2.9 | 0 |
| Exon 6 | c.1644C>T | p.A548A | rs2301778 | 22.4 | ND |
| Intron 6 | c.1825+3G>A | NA | ss73757959 | 2.4 | 4.0 |
| c.1825+22_1825+42del CTGGAGGGGGAGGGGGCACGC | NA | ss73758050 | 19.4 | 14.0 | |
| c.1826-17delC | NA | ss73757957 | 32.93 | ND | |
| c.1826-18C>G | NA | ss73757953 | 0.63 | ND | |
| c.1826-20C>G | NA | ss73757955 | 0.63 | ND | |
| Exon 7 | c.1872C>T | p.A624A | rs1054786 | 31.0 | ND |
| Intron 7 | c.1990+24_1990+57dup GGGGCGGGTGCCCT GGCGGGGGAGGGG CGTGGCC | NA | ss73758057 | 48.8 | 40.0 |
| c.1991-25C>T | NA | ss73758060 | 1.2 | ND | |
| c.1991-4G>T | NA | ss73758062 | 0.6 | ND | |
| Exon 8 | c.2253G>C | p.A751A | ss73758066 | 19.6 | ND |
| 3′ UTR | c.2670+35G>A | NA | ss73758068 | 11.3 | ND |
| c.2670+94C>T | NA | ss73758070 | 0.6 | ND | |
| c.2670+137G>A | NA | ss73758072 | 0.6 | ND | |
| c.2670+197C>T | NA | ss73758074 | 4.8 | ND | |
| c.2670+214G>A | NA | ss73758076 | 17.3 | ND | |
| c.2670+227G>A | NA | ss73758078 | 17.3 | ND | |
Nucleotide positions based on GenBank Accession Number AF065164. The translational start site of the HCN2 gene is considered to be nucleotide position 1.
1
n=177;
2
n=307;
3
n=82; Del, deletion; Ins, insertion; NA, not applicable; ND, not determined.