The UMD-DYSF mutations database
Statistics: Sequence of exon 22



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Potential stop codons from exon 22

AA position Wild type codon Wild type AA exon Species
686
GAA
Glu
22
1
687
GCT
Ala
22
1
688
GGC
Gly
22
1
689
CTG
Leu
22
1
690
GAG
Glu
22
1
691
CAG
Gln
22
1
692
GTC
Val
22
1
693
CAC
His
22
1
694
CTG
Leu
22
1
695
GCC
Ala
22
1
696
CTG
Leu
22
1
697
AAG
Lys
22
1
698
GCG
Ala
22
1
699
CAG
Gln
22
1
700
TGC
Cys
22
1
701
TCC
Ser
22
1
702
ACG
Thr
22
1
703
GAG
Glu
22
1
704
GAC
Asp
22
1
705
GTG
Val
22
1
706
GAC
Asp
22
1
707
TCG
Ser
22
1
708
CTG
Leu
22
1
709
GTG
Val
22
1
710
GCT
Ala
22
1
711
CAG
Gln
22
1
712
CTG
Leu
22
1
713
ACG
Thr
22
1
714
GAT
Asp
22
1
715
GAG
Glu
22
1
716
CTC
Leu
22
1
717
ATC
Ile
22
1
718
GCA
Ala
22
1
719
GGC
Gly
22
1
720
TGC
Cys
22
1
721
AGC
Ser
22-23
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