The UMD-DYSF mutations database
Statistics: Sequence of exon 19



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Potential stop codons from exon 19

AA position Wild type codon Wild type AA exon Species
547
GGG
Gly
19
1
548
GAA
Glu
19
1
549
GGT
Gly
19
1
550
GTG
Val
19
1
551
GCT
Ala
19
1
552
TAT
Tyr
19
1
553
CGT
Arg
19
1
554
GGC
Gly
19
1
555
CGG
Arg
19
1
556
CTT
Leu
19
1
557
CTG
Leu
19
1
558
CTC
Leu
19
1
559
TCC
Ser
19
1
560
CTG
Leu
19
1
561
GAG
Glu
19
1
562
ACC
Thr
19
1
563
AAG
Lys
19
1
564
CTG
Leu
19
1
565
GTG
Val
19
1
566
GAG
Glu
19
1
567
CAC
His
19
1
568
AGT
Ser
19
1
569
GAA
Glu
19
1
570
CAG
Gln
19
1
571
AAG
Lys
19
1
572
GTG
Val
19
1
573
GAG
Glu
19
1
574
GAC
Asp
19
1
575
CTT
Leu
19
1
576
CCT
Pro
19
1
577
GCG
Ala
19
1
578
GAT
Asp
19
1
579
GAC
Asp
19
1
580
ATC
Ile
19
1
581
CTC
Leu
19
1
582
CGG
Arg
19
1
583
GTG
Val
19
1
584
GAG
Glu
19
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