The UMD-DYSF mutations database
Statistics: Sequence of exon 46



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Potential stop codons from exon 46

AA position Wild type codon Wild type AA exon Species
1687
TCT
Ser
46
1
1688
GGA
Gly
46
1
1689
CCG
Pro
46
1
1690
AAC
Asn
46
1
1691
CAG
Gln
46
1
1692
TGG
Trp
46
1
1693
CGG
Arg
46
1
1694
GAC
Asp
46
1
1695
CAG
Gln
46
1
1696
CTC
Leu
46
1
1697
CGC
Arg
46
1
1698
CCC
Pro
46
1
1699
TCC
Ser
46
1
1700
CAG
Gln
46
1
1701
CTC
Leu
46
1
1702
CTC
Leu
46
1
1703
CAC
His
46
1
1704
CTC
Leu
46
1
1705
TTC
Phe
46
1
1706
TGC
Cys
46
1
1707
CAG
Gln
46
1
1708
CAG
Gln
46
1
1709
CAT
His
46
1
1710
AGA
Arg
46
1
1711
GTC
Val
46
1
1712
AAG
Lys
46
1
1713
GCA
Ala
46
1
1714
CCT
Pro
46
1
1715
GTG
Val
46
1
1716
TAC
Tyr
46
1
1717
CGG
Arg
46
1
1718
ACA
Thr
46
1
1719
GAC
Asp
46
1
1720
CGT
Arg
46
1
1721
GTA
Val
46
1
1722
ATG
Met
46
1
1723
TTT
Phe
46
1
1724
CAG
Gln
46
1
1725
GAT
Asp
46
1
1726
AAA
Lys
46
1
1727
GAA
Glu
46
1
1728
TAT
Tyr
46
1
1729
TCC
Ser
46
1
1730
ATT
Ile
46
1
1731
GAA
Glu
46
1
1732
GAG
Glu
46
1
1733
ATA
Ile
46
1
1734
GAG
Glu
46-47
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