Table 2.
Summary of ABCC1 variants detected during scanning by HRM
| Exon scanned by HRM | dbSNP ID | Variant position NM_004996.3: | Intron/amino acid residue NP_004987.2: | Observed genotypesa, b (n) | HWE exact test P-valuec | MAFd | ||
|---|---|---|---|---|---|---|---|---|
| R/R | R/V | V/V | ||||||
| 2 | rs8187843 | c.225 + 26G > A | Intron | 164 | 25 | 0 | 1 | (A) 0.066 |
| 4 | rs587783373* | c.352-79G > A | Intron | 185 | 1 | 0 | 1 | (A) 0.003 |
| 4 | rs4148337 | c.352-66 T > C | Intron | 15 | 80 | 91 | 0.727 | (T) 0.296 |
| 5 | rs483352860* | c.596C > T | p.Ser199Leu | 186 | 1 | 0 | 1 | (T) 0.003 |
| 6 | rs8187846 | c.677 + 17C > T | Intron | 188 | 1 | 0 | 1 | (T) 0.003 |
| 7 | rs483352864* | c.809 + 16C > T | Intron | 188 | 1 | 0 | 1 | (T) 0.003 |
| 7 | rs45609533 | c.809 + 31G > T | Intron | 183 | 5 | 0 | 1 | (T) 0.013 |
| 7 | rs903880 | c.809 + 54C > A | Intron | 112 | 65 | 11 | 0.684 | (A) 0.231 |
| 7 | rs246232 | c.809 + 64C > G | Intron | 84 | 90 | 14 | 0.174 | (G) 0.314 |
| 8 | rs546943313 | c.810-73C > T | Intron | 187 | 1 | 0 | 1 | (T) 0.003 |
| 8 | rs200194736 | c.814C > T | p.Pro272Ser | 187 | 1 | 0 | 1 | (T) 0.003 |
| 8 | rs2230669 | c.816G > A | p.Pro272= | 172 | 16 | 0 | 1 | (A) 0.043 |
| 8 | rs246221 | c.825 T > C | p.Val275= | 84 | 92 | 12 | 0.059 | (C) 0.309 |
| 8 | rs587783372* | c.855G > A | p.Pro285= | 187 | 1 | 0 | 1 | (A) 0.003 |
| 9 | rs35587 | c.1062 T > C | p.Asn354= | 78 | 91 | 16 | 0.185 | (C) 0.332 |
| 9 | rs35588 | c.1218 + 8A > G | Intron | 82 | 91 | 16 | 0.245 | (G) 0.327 |
| 9 | rs483352877* | c.1218 + 9C > T | Intron | 188 | 1 | 0 | 1 | (T) 0.003 |
| 10 | rs60782127 | c.1299G > T | p.Arg433Ser | 186 | 2 | 0 | 1 | (T) 0.005 |
| 12 | rs17265551 | c.1677 + 56C > T | Intron | 162 | 27 | 0 | 0.604 | (T) 0.072 |
| 13 | rs35604 | c.1678-37G > A | Intron | 2 | 45 | 142 | 0.745 | (G) 0.130 |
| 13 | rs483352863* | c.1678-34G > A | Intron | 188 | 1 | 0 | 1 | (A) 0.003 |
| 13 | rs35605 | c.1684 T > C | p.Leu562= | 2 | 45 | 142 | 0.745 | (T) 0.130 |
| 13 | rs8187858 | c.1704C > T | p.Tyr568= | 157 | 31 | 1 | 1 | (T) 0.088 |
| 14 | rs112282109 | c.1898G > A | p.Arg633Gln | 187 | 1 | 0 | 1 | (A) 0.003 |
| 16 | rs8187863 | c.2001C > T | p.Ser667= | 187 | 1 | 0 | 1 | (T) 0.003 |
| 16 | rs45511401 | c.2012G > T | p.Gly671Val | 161 | 25 | 2 | 0.296 | (T) 0.077 |
| 17 | rs4148356 | c.2168G > A | p.Arg723Gln | 181 | 9 | 0 | 1 | (A) 0.024 |
| 19 | rs45607032 | c.2461-39_2461-38delAT | Intron | 179 | 9 | 0 | 1 | (delAT) 0.024 |
| 19 | rs2074087 | c.2461-30C > G | Intron | 0 | 44 | 144 | 0.083 | (C) 0.117 |
| 19 | rs45492500 | c.2461-27G > A | Intron | 172 | 14 | 2 | 0.056 | (A) 0.048 |
| 21 | rs11075296 | c.2871 + 26C > T | Intron | 0 | 0 | 189 | 1 | - |
| 22 | rs768191257 | c.2876A > G | p.Lys959Arg | 187 | 1 | 0 | 1 | (G) 0.003 |
| 22 | rs3851716 | c.3079 + 10G > A | Intron | 0 | 0 | 188 | 1 | - |
| 22 | rs34794353 | c.3079 + 24C > T | Intron | 187 | 1 | 0 | 1 | (T) 0.003 |
| 22 | rs3887893 | c.3079 + 62 T > C | Intron | 67 | 96 | 25 | 0.358 | (C) 0.388 |
| 23 | rs191017838 | c.3171G > A | p.Leu1057= | 187 | 2 | 0 | 1 | (A) 0.005 |
| 23 | rs199773531 | c.3196C > T | p.Arg1066Trp | 188 | 1 | 0 | 1 | (T) 0.003 |
| 25 | rs41278168 | c.3591-5C > T | Intron | 187 | 1 | 0 | 1 | (T) 0.003 |
| 27 | rs200922662 | c.3886C > T | p.Arg1296Trp | 187 | 1 | 0 | 1 | (T) 0.003 |
| 27 | rs201533167 | c.3901C > T | p.Arg1301Cys | 187 | 1 | 0 | 1 | (T) 0.003 |
| 28 | rs2230671 | c.4002G > A | p.Ser1334= | 102 | 68 | 18 | 0.202 | (A) 0.277 |
| 28 | rs188980645 | c.4093G > A | p.Asp1365Asn | 187 | 1 | 0 | 1 | (A) 0.003 |
| 29 | rs212087 | c.4126-45G > A | Intron | 62 | 85 | 42 | 0.239 | (A) 0.447 |
| 30 | rs212088 | c.4487 + 18G > A | Intron | 136 | 47 | 5 | 0.775 | (A) 0.148 |
| 31 | rs587783374* | c.4551G > A | p.Gln1517= | 186 | 1 | 0 | 1 | (A) 0.003 |
| 31 | rs373453875 | c.*3C > G | 3’ UTR | 186 | 1 | 0 | 1 | (G) 0.003 |
*Novel polymorphic variants detected in this study. aNumber of genotypes detected during this study, R – reference allele, V – variant allele. bTotal number of examined samples was 190, however during scanning single samples were excluded because of accidental problems with amplification during PCR and hence, total number of genotypes is not equal precisely 190. cP-value is consistent with Hardy-Weinberg equilibrium if P > 0.001. dMinor allele shown in brackets with its frequency. Bold variants signifies the ones which were validated by genotyping results