Table 3 |
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|
Summary of SNPs in theDMN gene. |
|||||||||
|
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 |
AGG |
153 |
none |
91 |
64.1 |
|
|
CGG |
51 |
35.9 |
|||||||
|
|
|||||||||
|
3 |
1 |
Rod |
598 |
CAG |
200 |
Gln |
non-conservative |
452 |
99.6 |
|
TAG |
STOP |
2 |
0.4 |
||||||
|
|
|||||||||
|
4 |
2 |
Rod |
815 |
GCG |
272 |
Ala |
conservative |
103 |
57.9 |
|
GTG |
Val |
75 |
42.1 |
||||||
|
|
|||||||||
|
5 |
3 |
C-terminal |
988 |
GTT |
330 |
Val |
conservative |
165 |
90.7 |
|
ATT |
Ile |
17 |
9.3 |
||||||
|
|
|||||||||
|
6 |
4 |
C-terminal |
1063 |
AGG |
335 |
Arg |
non-conservative |
79 |
87.8 |
|
TGG |
Trp |
11 |
12.2 |
||||||
|
|
|||||||||
|
7 |
4 |
C-terminal |
1596 |
TCC |
532 |
none |
128 |
91.4 |
|
|
TCT |
12 |
8.6 |
|||||||
|
|
|||||||||
|
8 |
4 |
C-terminal |
1700 |
CCG |
567 |
Pro |
conservative |
149 |
81.9 |
|
CTG |
Leu |
33 |
18.1 |
||||||
|
|
|||||||||
|
9 |
4 |
C-terminal |
1713 |
AGC |
571 |
none |
162 |
89.0 |
|
|
AGT |
20 |
11.0 |
|||||||
|
|
|||||||||
|
10 |
4 |
C-terminal |
1835 |
GAA |
612 |
Glu |
non-conservative |
180 |
97.8 |
|
GCA |
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 |
CCG |
761 |
Pro |
conservative |
114 |
91.9 |
|
CTG |
Leu |
10 |
8.1 |
||||||
|
|
|||||||||
|
14 |
4 |
C-terminal |
2424 |
CCC |
808 |
none |
63 |
75.0 |
|
|
CCT |
21 |
25.0 |
|||||||
|
|
|||||||||
|
15 |
4 |
C-terminal |
2836 |
CGG |
946 |
Arg |
non-conservative |
324 |
99.4 |
|
TGG |
Trp |
2 |
0.6 |
||||||
|
|
|||||||||
|
16 |
4 |
C-terminal |
2927 |
CAG |
976 |
Gln |
non-conservative |
187 |
98.4 |
|
CGG |
Arg |
3 |
1.6 |
||||||
|
|
|||||||||
|
17 |
4 |
C-terminal |
2937 |
CCG |
979 |
none |
187 |
99.5 |
|
|
CCA |
1 |
0.5 |
|||||||
|
|
|||||||||
|
18 |
4 |
C-terminal |
3176 |
CCG |
1059 |
Pro |
conservative |
126 |
98.4 |
|
CTG |
Leu |
2 |
1.6 |
||||||
|
|
|||||||||
|
19 |
4 |
C-terminal |
3195 |
TTC |
1065 |
none |
95 |
76.6 |
|
|
TTT |
29 |
23.4 |
|||||||
|
|
|||||||||
|
20 |
4 |
C-terminal |
3200 |
CGT |
1067 |
Arg |
non-conservative |
114 |
91.9 |
|
CCT |
Pro |
10 |
8.1 |
||||||
|
|
|||||||||
|
21 |
4 |
C-terminal |
3230 |
TCA |
1077 |
Ser |
non-conservative |
115 |
89.8 |
|
TTA |
Leu |
13 |
10.2 |
||||||
|
|
|||||||||
|
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. |
|||||||||
|
Mizuno et al. BMC Genetics 2001 2:8 doi:10.1186/1471-2156-2-8 |
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