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The transmembrane domains contain 6–11 membrane spanning helices, and the ABCC protein contains 6. These helices provide the protein with specificity for the molecule they transport across the membrane. Several single nucleotide polymorphisms (SNPs [www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi? locusId=6833&view=view&chooseRs=coding&.cgifields=chooseRs]) have been found within the ABCC8 gene. Usually SNPs linked with disease occur within the coding regions (exons) of the genes, and they result in a non-synonymous amino acid change. In ABCC8, there are seven such SNPs (at the time of writing) that cause a switch of amino acids in the mature protein (Figure 2). However, one of the SNPs of the ABCC8 gene that has been linked with diabetes (R1273R) does not cause an amino acid change (see below).
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