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Table 3 Summary of SNPs in theDMN gene.

From: Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

    Nucleotide Nucleotide Amino Acid    # of chromosomes
SNP Exon Domain Position Change Position   Amino Acid Change Total %
1 1 Rod 408 CGG 136   none 91 64.1
     CGA     51 35.9
2 1 Rod 457 A GG 153   none 91 64.1
     C GG     51 35.9
3 1 Rod 598 C AG 200 Gln non-conservative 452 99.6
     T AG   STOP   2 0.4
4 2 Rod 815 GC G 272 Ala conservative 103 57.9
     GT G   Val   75 42.1
5 3 C-terminal 988 G TT 330 Val conservative 165 90.7
     A TT   Ile   17 9.3
6 4 C-terminal 1063 A GG 335 Arg non-conservative 79 87.8
     T GG   Trp   11 12.2
7 4 C-terminal 1596 TCC 532   none 128 91.4
     TCT     12 8.6
8 4 C-terminal 1700 CC G 567 Pro conservative 149 81.9
     CT G   Leu   33 18.1
9 4 C-terminal 1713 AGC 571   none 162 89.0
     AGT     20 11.0
10 4 C-terminal 1835 GA A 612 Glu non-conservative 180 97.8
     GC A   Ala   4 2.2
11 4 C-terminal 1953 ACT 651   none 131 72.8
     ACC     49 27.2
12 4 C-terminal 2010 TAC 670   none 176 97.8
     TAT     4 2.2
13 4 C-terminal 2282 CC G 761 Pro conservative 114 91.9
     CT G   Leu   10 8.1
14 4 C-terminal 2424 CCC 808   none 63 75.0
     CCT     21 25.0
15 4 C-terminal 2836 C GG 946 Arg non-conservative 324 99.4
     T GG   Trp   2 0.6
16 4 C-terminal 2927 CA G 976 Gln non-conservative 187 98.4
     CG G   Arg   3 1.6
17 4 C-terminal 2937 CCG 979   none 187 99.5
     CCA     1 0.5
18 4 C-terminal 3176 CC G 1059 Pro conservative 126 98.4
     CT G   Leu   2 1.6
19 4 C-terminal 3195 TTC 1065   none 95 76.6
     TTT     29 23.4
20 4 C-terminal 3200 CG T 1067 Arg non-conservative 114 91.9
     CC T   Pro   10 8.1
21 4 C-terminal 3230 TC A 1077 Ser non-conservative 115 89.8
     TT A   Leu   13 10.2
  1. The details of 21 SNPs are shown. The exon and domain location as well as the nucleotide and amino acid positions of SNP are given. Also listed are the major and minor alleles, both as nucleotide and amino acid, and the corresponding frequencies, in terms of numbers of chromosomes and percentage. The nucleotide substitution is highlighted in bold. The amino acid change indicates the degree of alteration in the encoded residue; the change is described as none if there was no change, conservative if the alteration does not change the residue's polarity or charge, and non-conservative if the polarity and/or charge of the encoded residues differ.