The UMD-DYSF mutations database
Statistics: Sequence of exon 49



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Potential stop codons from exon 49

AA position Wild type codon Wild type AA exon Species
1811
TTT
Phe
49
1
1812
TTC
Phe
49
1
1813
CTG
Leu
49
1
1814
CGT
Arg
49
1
1815
TGT
Cys
49
1
1816
ATT
Ile
49
1
1817
ATC
Ile
49
1
1818
TGG
Trp
49
1
1819
AAT
Asn
49
1
1820
ACC
Thr
49
1
1821
AGA
Arg
49
1
1822
GAT
Asp
49
1
1823
GTG
Val
49
1
1824
ATC
Ile
49
1
1825
CTG
Leu
49
1
1826
GAT
Asp
49
1
1827
GAC
Asp
49
1
1828
CTG
Leu
49
1
1829
AGC
Ser
49
1
1830
CTC
Leu
49
1
1831
ACG
Thr
49
1
1832
GGG
Gly
49
1
1833
GAG
Glu
49
1
1834
AAG
Lys
49
1
1835
ATG
Met
49
1
1836
AGC
Ser
49
1
1837
GAC
Asp
49
1
1838
ATT
Ile
49
1
1839
TAT
Tyr
49
1
1840
GTG
Val
49
1
1841
AAA
Lys
49
1
1842
GGT
Gly
49-50
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