ABCMdb

PMID: 24768178

Haghverdizadeh P, Sadat Haerian M, Haghverdizadeh P, Sadat Haerian B
ABCC8 genetic variants and risk of diabetes mellitus.
Gene. 2014 Jul 25;545(2):198-204. doi: 10.1016/j.gene.2014.04.040. Epub 2014 Apr 21., [PubMed]

Sentences

No. Mutations Sentence Comment

75 ABCC8 p.Ala1369Ser A substitution of G to T (GCC ࢐ TCC) changes amino acid from alanine at 1369 residue to serine (Ala1369Ser). Login to comment 129 ABCC8 p.Ala1369Ser ABCC8 p.Tyr356Cys Polymorphism Location MAF Allele Amino Acid Association Reference Chromosome Gene Diabetes Association 1 rs757110 17,375,052 Exon 0.26 G N T Ala1369Ser T2DM Yes 42,52,61,78,77 No 11, 12,18,22,34,64, 67, 105 2 rs1799854 17,405,279 Intron 0.41 G N A - T2DM Yes 11,12,34,41,67,90,95,101 No 3,18,32,42,52,56,62,73,85,91,92,103,105 GDM Yes 71 No 10 3 rs1799859 17,375,854 Exon 0.33 G N A Arg1273Arg T2DM Yes 11,12,34,40,54,74,96,102 No 18,67 T2DM/GDM Yes 98 4 rs1801261 17,393,440 Exon 0.01 C N T Thr759Thr T2DM Yes 84,92,105 No 3,91,101 T2DM/GDM No 98 5 rs2074308 17,409,155 Intron 0.14 C N T - T2DM Yes 78 No 18,52 6 rs2074312 17,378,365 Intron 0.29 G N A - T2DM No 42,52 7 rs1799858 17,406,504 Exon 0.15 G N A Lys649Lys T2DM Yes 18,78 T2DM/GDM No 98 8 rs2188966 17,456,460 5'-UTR 0.36 C N T - T2DM No 54,74 9 rs2237984 17,402,596 Intron 0.41 T N C - T2DM No 42,52 10 rs3758947 17,501,210 Intron 0.19 G N A - T2DM Yes 54 No 74 11 rs3758953 17,456,122 5'-UTR 0.49 A N G - T2DM Yes 54 No 74 12 rs4148646 17,371,765 Intron 0.28 C N G - T2DM Yes 78 No 52 13 rs1048099 17,453,091 Exon 0.44 T N A Pro69Pro T2DM No 18,52 14 rs1805036 17,390,859 Exon 0.10 C N T Leu829Leu T2DM/GDM No 98 15 rs2073583 17,383,911 Intron 0.22 G N C - T2DM No 52 16 rs2074311 17,378,435 Intron 0.31 A N G - T2DM No 18 17 rs2237976 17,433,091 Intron 0.43 T N G - T2DM No 52 18 rs2237981 17,417,474 Intron 0.43 T N C - T2DM No 42 19 rs2237991 17,396,804 Intron 0.36 A N G - T2DM No 52 20 rs2237992 17,387,508 Intron 0.21 A N G - T2DM No 52 21 rs2283257 17,446,020 Intron 0.12 C N T - T2DM No 52 22 rs2301703 17,441,546 Intron 0.47 G N A - T2DM No 52 23 rs4148628 17,392,768 Intron NI C N T - T2DM Yes 78 24 rs4148630 17,392,541 Intron 0.24 G N A - T2DM No 52 25 rs59852838 17,431,350 Exon 0.06 T N C Tyr356Cys T2DM Yes 44 26 rs72559731 17,448,289 Exon NI C N G Ala116Pro T2DM No 11 27 rs7947326 17,425,068 Intron 0.38 A N C - T2DM No 52 28 rs8192695 17,448,305 Exon 0.55 G N A Ala110Ala T2DM No 11 29 rs886293 17,418,795 Intron 0.32 A N G T2DM No 52 function. Login to comment