The UMD-DYSF mutations database
Statistics: Sequence of exon 5



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Potential stop codons from exon 5

AA position Wild type codon Wild type AA exon Species
115
GCC
Ala
5
1
116
TCG
Ser
5
1
117
CTG
Leu
5
1
118
GTC
Val
5
1
119
CTG
Leu
5
1
120
CAG
Gln
5
1
121
GTG
Val
5
1
122
TCC
Ser
5
1
123
TAC
Tyr
5
1
124
ACA
Thr
5
1
125
CCG
Pro
5
1
126
CTG
Leu
5
1
127
CCT
Pro
5
1
128
GGA
Gly
5
1
129
GCT
Ala
5
1
130
GTG
Val
5
1
131
CCC
Pro
5
1
132
CTG
Leu
5
1
133
TTC
Phe
5
1
134
CCG
Pro
5
1
135
CCC
Pro
5
1
136
CCT
Pro
5
1
137
ACT
Thr
5
1
138
CCT
Pro
5
1
139
CTG
Leu
5
1
140
GAG
Glu
5
1
141
CCC
Pro
5
1
142
TCC
Ser
5
1
143
CCG
Pro
5
1
144
ACT
Thr
5
1
145
CTG
Leu
5
1
146
CCT
Pro
5
1
147
GAC
Asp
5
1
148
CTG
Leu
5
1
149
GAT
Asp
5
1
150
GTA
Val
5
1
151
GTG
Val
5
1
152
GCA
Ala
5
1
153
GAC
Asp
5-6
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