The UMD-DYSF mutations database
Statistics: Sequence of exon 54



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Potential stop codons from exon 54

AA position Wild type codon Wild type AA exon Species
2020
CGC
Arg
54
1
2021
CCC
Pro
54
1
2022
GAC
Asp
54
1
2023
ACC
Thr
54
1
2024
TCC
Ser
54
1
2025
TTC
Phe
54
1
2026
CTG
Leu
54
1
2027
TGG
Trp
54
1
2028
TTT
Phe
54
1
2029
ACC
Thr
54
1
2030
TCC
Ser
54
1
2031
CCA
Pro
54
1
2032
TAC
Tyr
54
1
2033
AAG
Lys
54
1
2034
ACC
Thr
54
1
2035
ATG
Met
54
1
2036
AAG
Lys
54
1
2037
TTC
Phe
54
1
2038
ATC
Ile
54
1
2039
CTG
Leu
54
1
2040
TGG
Trp
54
1
2041
CGG
Arg
54
1
2042
CGT
Arg
54
1
2043
TTC
Phe
54
1
2044
CGG
Arg
54
1
2045
TGG
Trp
54
1
2046
GCC
Ala
54
1
2047
ATC
Ile
54
1
2048
ATC
Ile
54
1
2049
CTC
Leu
54
1
2050
TTC
Phe
54
1
2051
ATC
Ile
54
1
2052
ATC
Ile
54
1
2053
CTC
Leu
54
1
2054
TTC
Phe
54
1
2055
ATC
Ile
54
1
2056
CTG
Leu
54
1
2057
CTG
Leu
54
1
2058
CTG
Leu
54
1
2059
TTC
Phe
54
1
2060
CTG
Leu
54
1
2061
GCC
Ala
54
1
2062
ATC
Ile
54
1
2063
TTC
Phe
54
1
2064
ATC
Ile
54
1
2065
TAC
Tyr
54
1
2066
GCC
Ala
54
1
2067
TTC
Phe
54
1
2068
CCG
Pro
54
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