2 <seqDiff id="M20132" moltype="rna" offset="362" sysname="[c.+4G|A|T;c.+31C|A]" trivname="[E2|K|X;Q11|K]">
3 <DNA number="1.1" start="4" end="4" length="1" isMutation="0">
5 <label>transition</label>
6 <proof>computed</proof>
7 <upFlank>gaagattcagccaagctcaaggatg</upFlank>
8 <allele_ori>g</allele_ori>
9 <allele_mut>a</allele_mut>
10 <dnFlank>aagtgcagttagggctgggaagggt</dnFlank>
11 <restriction_changes>-BccI</restriction_changes>
13 <DNA number="1.2" start="4" end="4" length="1" isMutation="0">
15 <label>transversion</label>
16 <proof>computed</proof>
17 <upFlank>gaagattcagccaagctcaaggatg</upFlank>
18 <allele_ori>g</allele_ori>
19 <allele_mut>t</allele_mut>
20 <dnFlank>aagtgcagttagggctgggaagggt</dnFlank>
21 <restriction_changes>-BccI</restriction_changes>
23 <RNA number="1.1" start="4" end="4" length="1" isMutation="0">
24 <label>missense</label>
25 <proof>experimental</proof>
26 <upFlank>gaagattcagccaagctcaaggatg</upFlank>
27 <allele_ori>g</allele_ori>
28 <allele_mut>a</allele_mut>
29 <dnFlank>aagtgcagttagggctgggaagggt</dnFlank>
30 <codon codon_ori="gaa" codon_mut="aaa" codon_pos="1"></codon>
31 <restriction_changes>-BccI</restriction_changes>
32 <region>coding</region>
34 <RNA number="1.2" start="4" end="4" length="1" isMutation="0">
35 <label>nonsense</label>
36 <proof>experimental</proof>
37 <upFlank>gaagattcagccaagctcaaggatg</upFlank>
38 <allele_ori>g</allele_ori>
39 <allele_mut>t</allele_mut>
40 <dnFlank>aagtgcagttagggctgggaagggt</dnFlank>
41 <codon codon_ori="gaa" codon_mut="taa" codon_pos="1"></codon>
42 <restriction_changes>-BccI</restriction_changes>
43 <region>coding</region>
45 <AA number="1.1" start="2" end="2" length="1" isMutation="0">
46 <label>substitution</label>
47 <label>conservative</label>
48 <proof>computed</proof>
49 <allele_ori>E</allele_ori>
50 <allele_mut>K</allele_mut>
52 <AA number="1.2" start="2" end="2" length="1" isMutation="0">
53 <label>truncation</label>
54 <proof>computed</proof>
55 <allele_ori>E</allele_ori>
56 <allele_mut>*</allele_mut>
58 <DNA number="2" start="31" end="31" length="1" isMutation="0">
60 <label>transversion</label>
61 <proof>computed</proof>
62 <upFlank>gaagattcagccaagctcaaggatg</upFlank>
63 <allele_ori>c</allele_ori>
64 <allele_mut>a</allele_mut>
65 <dnFlank>aagtgcagttagggctgggaagggt</dnFlank>
66 <restriction_changes>-CviRI, -SfaNI</restriction_changes>
68 <RNA number="2" start="31" end="31" length="1" isMutation="0">
69 <label>missense</label>
70 <proof>experimental</proof>
71 <upFlank>gaagattcagccaagctcaaggatg</upFlank>
72 <allele_ori>c</allele_ori>
73 <allele_mut>a</allele_mut>
74 <dnFlank>aagtgcagttagggctgggaagggt</dnFlank>
75 <codon codon_ori="caa" codon_mut="aaa" codon_pos="1"></codon>
76 <restriction_changes>-CviRI, -SfaNI</restriction_changes>
77 <region>coding</region>
79 <AA number="2" start="11" end="11" length="1" isMutation="0">
80 <label>substitution</label>
81 <label>conservative</label>
82 <proof>computed</proof>
83 <allele_ori>Q</allele_ori>
84 <allele_mut>K</allele_mut>