The UMD-DYSF mutations database
Statistics: Sequence of exon 1



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Potential stop codons from exon 1

AA position Wild type codon Wild type AA exon Species
1
ATG
Met
1
1
2
CTG
Leu
1
1
3
AGG
Arg
1
1
4
GTC
Val
1
1
5
TTC
Phe
1
1
6
ATC
Ile
1
1
7
CTC
Leu
1
1
8
TAT
Tyr
1
1
9
GCC
Ala
1
1
10
GAG
Glu
1
1
11
AAC
Asn
1
1
12
GTC
Val
1
1
13
CAC
His
1
1
14
ACA
Thr
1
1
15
CCC
Pro
1
1
16
GAC
Asp
1
1
17
ACC
Thr
1
1
18
GAC
Asp
1
1
19
ATC
Ile
1
1
20
AGC
Ser
1
1
21
GAT
Asp
1
1
22
GCC
Ala
1
1
23
TAC
Tyr
1
1
24
TGC
Cys
1
1
25
TCC
Ser
1
1
26
GCG
Ala
1
1
27
GTG
Val
1
1
28
TTT
Phe
1
1
29
GCA
Ala
1
1
30
GGG
Gly
1-2
1

Red: Amino acids that can be mutated in a stop codon by a single substitution (example: GAT -> TAG)
Species: 1=Human; 2=Mammals; 3=Vertebrates