The UMD-DYSF mutations database
Statistics: Sequence of exon 47



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Potential stop codons from exon 47

AA position Wild type codon Wild type AA exon Species
1735
GCT
Ala
47
1
1736
GGC
Gly
47
1
1737
AGG
Arg
47
1
1738
ATC
Ile
47
1
1739
CCA
Pro
47
1
1740
AAC
Asn
47
1
1741
CCA
Pro
47
1
1742
CAC
His
47
1
1743
CTG
Leu
47
1
1744
GGC
Gly
47
1
1745
CCA
Pro
47
1
1746
GTG
Val
47
1
1747
GAG
Glu
47
1
1748
GAG
Glu
47
1
1749
CGT
Arg
47
1
1750
CTG
Leu
47
1
1751
GCT
Ala
47
1
1752
CTG
Leu
47
1
1753
CAT
His
47
1
1754
GTG
Val
47
1
1755
CTT
Leu
47
1
1756
CAG
Gln
47
1
1757
CAG
Gln
47
1
1758
CAG
Gln
47
1
1759
GGC
Gly
47
1
1760
CTG
Leu
47
1
1761
GTC
Val
47
1
1762
CCG
Pro
47
1
1763
GAG
Glu
47
1
1764
CAC
His
47
1
1765
GTG
Val
47
1
1766
GAG
Glu
47
1
1767
TCA
Ser
47
1
1768
CGG
Arg
47
1
1769
CCC
Pro
47
1
1770
CTC
Leu
47
1
1771
TAC
Tyr
47
1
1772
AGC
Ser
47
1
1773
CCC
Pro
47
1
1774
CTG
Leu
47
1
1775
CAG
Gln
47
1
1776
CCA
Pro
47
1
1777
GAC
Asp
47
1
1778
ATC
Ile
47
1
1779
GAG
Glu
47
1
1780
CAG
Gln
47
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