Main characteristics of genetic variants detected in the LARG and its 5′ region
| Variant | Position within the gene (nucleotide) | Alleles | Minor allele frequency | GenBank position | DbSNP (BUILD 124) |
|---|---|---|---|---|---|
| LARG-SNP1 | 5′ UTR (−8029) | T/C | C = 0.33 | 98864 (AP001150.4) | — |
| LARG-SNP2 | 5′ UTR (−5854) | T/C | C = 0.33 | 101039 (AP001150.4) | rs11217821 |
| LARG-SNP3 | 5′ UTR (−5659) | G/A | A = 0.42 | 101234 (AP001150.4) | — |
| LARG-SNP4 | 5′ UTR (−4695) | T/C | C = 0.12 | 102198 (AP001150.4) | — |
| LARG-SNP5 | 5′ UTR (−4394) | A/G | G = 0.33 | 102499 (AP001150.4) | — |
| LARG-SNP6 | 5′ UTR (−4325) | G/A | A = 0.33 | 102568 (AP001150.4) | rs12806740 |
| LARG-SNP7 | 5′ UTR (−2343) | TA (repeat) | TA (del) = 0.39 | 104498 (AP001150.4) | — |
| LARG-SNP8 | 5′ UTR (−317) | G (ins/del) | G (del) = 0.28 | 105576 (AP001150.4) | rs3840762 |
| LARG-SNP9 | 5′ UTR (−548) | A/G | G = 0.33 | 106345 (AP001150.4) | rs7126413 |
| LARG-SNP10 | Intron 2 (−88) | T/C | C = 0.28 | 66021 (AP000681.3) | rs6589812 |
| LARG-SNP11 | Intron 12 (199) | A/G | G = 0.28 | 129684 (AC016034.2) | rs10892578 |
| LARG-SNP12 | Intron 12 (−987) | C/T | T = 0.12 | 131245 (AC016034.2) | rs538661 |
| LARG-SNP13 | Intron 14 (−67) | G/A | A = 0.28 | 134140 (AC016034.2) | rs723937 |
| LARG-SNP14 | Intron 20 (7) | A/C | C = 0.28 | 140461 (AC016034.2) | rs2305008 |
| LARG-SNP15 | Intron 22 (−1549) | G/A | A = 0.39 | 147675 (AC016034.2) | rs476636 |
| LARG-SNP16 | Intron 29 (23) | A/G | G = 0.39 | 159437 (AC016034.2) | rs2305011 |
| LARG-SNP17 | Intron 34 (−43) | GTTGT (ins/del) | GTTGT (ins) = 0.28 | 9563 (AP000681.3) | — |
| LARG-SNP18 | Exon 38(Tyr1306Cys) | A/G (TAT/TGT)* | G = 0.42 | 3924 (NM_015313) | — |
| LARG-SNP19 | Intron 40 (14) | A/G | G = 0.12 | 71241 (AP000681.3) | rs503473 |
| LARG-SNP20 | 3’UTR (6287) | T (ins/del) | T (del) = 0.28 | 6287 (NM_015313) | rs3832734 |
| LARG-SNP21 | 3’UTR (6699) | TT (ins/del) | TT (del) = 0.28 | 6699 (NM_015313) | — |
* Underlined letters indicate the position of ATG substitution within codon 1306.