TABLE 1

Main characteristics of genetic variants detected in the LARG and its 5′ region

VariantPosition within the gene (nucleotide)AllelesMinor allele frequencyGenBank positionDbSNP (BUILD 124)
LARG-SNP15′ UTR (−8029)T/CC = 0.3398864 (AP001150.4)
LARG-SNP25′ UTR (−5854)T/CC = 0.33101039 (AP001150.4)rs11217821
LARG-SNP35′ UTR (−5659)G/AA = 0.42101234 (AP001150.4)
LARG-SNP45′ UTR (−4695)T/CC = 0.12102198 (AP001150.4)
LARG-SNP55′ UTR (−4394)A/GG = 0.33102499 (AP001150.4)
LARG-SNP65′ UTR (−4325)G/AA = 0.33102568 (AP001150.4)rs12806740
LARG-SNP75′ UTR (−2343)TA (repeat)TA (del) = 0.39104498 (AP001150.4)
LARG-SNP85′ UTR (−317)G (ins/del)G (del) = 0.28105576 (AP001150.4)rs3840762
LARG-SNP95′ UTR (−548)A/GG = 0.33106345 (AP001150.4)rs7126413
LARG-SNP10Intron 2 (−88)T/CC = 0.2866021 (AP000681.3)rs6589812
LARG-SNP11Intron 12 (199)A/GG = 0.28129684 (AC016034.2)rs10892578
LARG-SNP12Intron 12 (−987)C/TT = 0.12131245 (AC016034.2)rs538661
LARG-SNP13Intron 14 (−67)G/AA = 0.28134140 (AC016034.2)rs723937
LARG-SNP14Intron 20 (7)A/CC = 0.28140461 (AC016034.2)rs2305008
LARG-SNP15Intron 22 (−1549)G/AA = 0.39147675 (AC016034.2)rs476636
LARG-SNP16Intron 29 (23)A/GG = 0.39159437 (AC016034.2)rs2305011
LARG-SNP17Intron 34 (−43)GTTGT (ins/del)GTTGT (ins) = 0.289563 (AP000681.3)
LARG-SNP18Exon 38(Tyr1306Cys)A/G (TAT/TGT)*G = 0.423924 (NM_015313)
LARG-SNP19Intron 40 (14)A/GG = 0.1271241 (AP000681.3)rs503473
LARG-SNP203’UTR (6287)T (ins/del)T (del) = 0.286287 (NM_015313)rs3832734
LARG-SNP213’UTR (6699)TT (ins/del)TT (del) = 0.286699 (NM_015313)
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    * Underlined letters indicate the position of ATG substitution within codon 1306.