Polymorphisms in RET and EDNRB genes
Alleles in controls | Alleles in patients | |||||||
---|---|---|---|---|---|---|---|---|
Gene | No | Frequency | No | Frequency | Position | Nucleotide | Amino acid | |
RET | 29 | 0.141 | 94 | 0.770 | Exon 2 | 390 A | 45 A | |
RET | 177 | 0.859 | 28 | 0.230 | 390 G | 45 A | ||
RET | — | — | 121 | 0.992 | Exon 3 | 570 C | 125 V | |
RET | — | — | 1 | 0.008 | 570 A | 125 V | ||
RET | — | — | 77 | 0.631 | Exon 7 | 1491 G | 432 A | |
RET | — | — | 45 | 0.369 | 1491 A | 432 A | ||
RET | — | — | 75 | 0.615 | Exon 13 | 2502 C | 769 L | |
RET | — | — | 47 | 0.385 | 2502 G | 769 L | ||
RET | — | — | 92 | 0.754 | Exon 15 | 2907 C | 904 S | |
RET | — | — | 30 | 0.246 | 2907 G | 904 S | ||
EDNRB | 54 | 0.931 | 106 | 0.883 | Exon 1 | ATG-148A | 5' UTR | |
EDNRB | 4 | 0.069 | 14 | 0.117 | ATG-148G | 5' UTR | ||
EDNRB | 48 | 0.857 | 109 | 0.924 | Exon 1 | c169G | 57G | |
EDNRB | 8 | 0.143 | 9 | 0.076 | c169A | 57S | ||
EDNRB | 49 | 0.875 | 96 | 0.828 | Exon 4 | c818A+c875T | 273K+292F | |
EDNRB | 7 | 0.125 | 20 | 0.172 | c818G+c875G | 273R+292C |
Allele frequencies, nucleotides affected, and amino acid exchange are given for the observed polymorphisms of the respective genes.
— , not examined.