The UMD-DYSF mutations database
Statistics: Sequence of exon 48



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Potential stop codons from exon 48

AA position Wild type codon Wild type AA exon Species
1781
GGG
Gly
48
1
1782
AAG
Lys
48
1
1783
CTG
Leu
48
1
1784
CAG
Gln
48
1
1785
ATG
Met
48
1
1786
TGG
Trp
48
1
1787
GTC
Val
48
1
1788
GAC
Asp
48
1
1789
CTA
Leu
48
1
1790
TTT
Phe
48
1
1791
CCG
Pro
48
1
1792
AAG
Lys
48
1
1793
GCC
Ala
48
1
1794
CTG
Leu
48
1
1795
GGG
Gly
48
1
1796
CGG
Arg
48
1
1797
CCT
Pro
48
1
1798
GGA
Gly
48
1
1799
CCT
Pro
48
1
1800
CCC
Pro
48
1
1801
TTC
Phe
48
1
1802
AAC
Asn
48
1
1803
ATC
Ile
48
1
1804
ACC
Thr
48
1
1805
CCA
Pro
48
1
1806
CGG
Arg
48
1
1807
AGA
Arg
48
1
1808
GCC
Ala
48
1
1809
AGA
Arg
48
1
1810
AGG
Arg
48-49
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