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