The UMD-DYSF mutations database
Statistics: Sequence of exon 52



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Potential stop codons from exon 52

AA position Wild type codon Wild type AA exon Species
1924
TCC
Ser
52
1
1925
CTG
Leu
52
1
1926
CAG
Gln
52
1
1927
CTC
Leu
52
1
1928
GAT
Asp
52
1
1929
CTC
Leu
52
1
1930
AAC
Asn
52
1
1931
CGC
Arg
52
1
1932
ATG
Met
52
1
1933
CCC
Pro
52
1
1934
AAG
Lys
52
1
1935
CCA
Pro
52
1
1936
GCC
Ala
52
1
1937
AAG
Lys
52
1
1938
ACA
Thr
52
1
1939
GCC
Ala
52
1
1940
AAG
Lys
52
1
1941
AAG
Lys
52
1
1942
TGC
Cys
52
1
1943
TCC
Ser
52
1
1944
TTG
Leu
52
1
1945
GAC
Asp
52
1
1946
CAG
Gln
52
1
1947
CTG
Leu
52
1
1948
GAT
Asp
52
1
1949
GAT
Asp
52
1
1950
GCT
Ala
52
1
1951
TTC
Phe
52
1
1952
CAC
His
52
1
1953
CCA
Pro
52
1
1954
GAA
Glu
52
1
1955
TGG
Trp
52
1
1956
TTT
Phe
52
1
1957
GTG
Val
52
1
1958
TCC
Ser
52
1
1959
CTT
Leu
52
1
1960
TTT
Phe
52
1
1961
GAG
Glu
52
1
1962
CAG
Gln
52
1
1963
AAA
Lys
52
1
1964
ACA
Thr
52
1
1965
GTG
Val
52
1
1966
AAG
Lys
52
1
1967
GGC
Gly
52
1
1968
TGG
Trp
52
1
1969
TGG
Trp
52
1
1970
CCC
Pro
52
1
1971
TGT
Cys
52
1
1972
GTA
Val
52
1
1973
GCA
Ala
52
1
1974
GAA
Glu
52
1
1975
GAG
Glu
52
1
1976
GGT
Gly
52
1
1977
GAG
Glu
52
1
1978
AAG
Lys
52
1
1979
AAA
Lys
52
1
1980
ATA
Ile
52
1
1981
CTG
Leu
52
1
1982
GCG
Ala
52
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