KCNQ1 sequence variants identified in 111 Chinese patients with lone atrial fibrillation
| Exon/intron | rs no | Region | Nucleotide change* | Amino acid change | Conserved† | Cryptic splicing predicted | Allele frequency in this AF cohort | Reported allele frequency in normal Han Chinese subjects |
| 2 | rs1800170 | S1–S2 | C435T | I145I | – | 0 | 0.027 | 0.055§ |
| IVS5 | rs12786951 | S4–S5 | 5′+77A>G | – | – | 0 | 0.536 | NA |
| 10 | rs12720449 | C-terminal | C1343G | P448R | + | 0 | 0.108 | 0.086§ |
| IVS10 | rs739502 | C-terminal | 3′-39T>G | – | – | 0 | 0.041 | NA |
| IVS10 | rs28730758 | C-terminal | 3′-14C>T | – | – | 0 | 0.041 | NA |
| IVS11 | NA, novel | C-terminal | 5′+7G>T | – | – | 0 | 0.005 | NA |
| IVS11 | rs12577654 | C-terminal | 5′+18C>T | – | – | 0 | 0.009 | 0.00¶ |
| IVS11 | rs760419 | C-terminal | 5′+46A>G | – | – | 0 | 0.288 | 0.318¶ |
| IVS11 | NA, novel | C-terminal | 3′-83G>A | – | – | 0 | 0.009 | NA |
| IVS11 | rs2075870 | C-terminal | 3′-55G>A | – | – | 0 | 0.203 | 0.170¶ |
| 13 | rs1057128 | C-terminal | G1638A | S546S | – | 0 | 0.275 | 0.243§ |
| IVS13 | NA, novel | C-terminal | 5′+23G>A | – | – | 0 | 0.004 | NA |
| IVS13 | rs163150 | C-terminal | 5′+36A>G | – | – | 0 | 0.707 | 0.711¶ |
| IVS14 | rs81204 | C-terminal | 5′+43T>C | – | – | 0 | 0.284 | 0.311¶ |
| 16 | rs1800172 | C-terminal | G1927A | G643S | 0‡ | 0 | 0.014 | 0.008§ |
| 16 | rs2519184 | C-terminal | 479G>A | – | – | 0 | 0.059 | NA |
| 16 | rs45510192 | C-terminal | 482G>A | – | – | 0 | 0.023 | NA |
| 16 | NA, novel | C-terminal | 742G>A | – | – | 0 | 0.023 | NA |
| 16 | NA, novel | C-terminal | 837G>A | – | – | 0 | 0.045 | NA |
| 16 | NA, novel | C-terminal | 875G>A | – | – | 0 | 0.153 | NA |
| 16 | NA, novel | C-terminal | 932G>A | – | – | 0 | 0.149 | NA |
| 16 | NA, novel | C-terminal | 975C>T | – | – | 0 | 0.018 | NA |
| 16 | NA, novel | C-terminal | 1055C>T | – | – | 0 | 0.005 | NA |
↵* Nucleotide numbering for coding variants starts from the ATG start codon in isoform 1 (GenBank accession number: NM_000218.2). Intronic variants are numbered with respect to the corresponding exon–intron boundaries (5′ or 3′±number of nucleotides). Except for G1927A, all other variants in exon 16 are non-coding; numbering of non-coding variants in exon 16 is with respect to the translation termination codon.
↵† Conserved in dog, cattle, mouse and rat.
↵‡ Not conserved in dog, cattle, mouse and rat.
↵§ Based on 265 unrelated Han Chinese in Singapore.4
↵¶ Based on 45 unrelated Han Chinese in Beijing, China, representing one of the populations studied in the International HapMap project (http://www.hapmap.org).
+, yes; 0, no; –, not relevant; NA, not available; S1, transmembrane segment 1; S2, transmembrane segment 2; S4, transmembrane segment 4; S5, transmembrane segment 5.