The UMD-DYSF mutations database
Statistics: Sequence of exon 44



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Potential stop codons from exon 44

AA position Wild type codon Wild type AA exon Species
1599
TGT
Cys
44
1
1600
GAT
Asp
44
1
1601
CCT
Pro
44
1
1602
TAC
Tyr
44
1
1603
ATC
Ile
44
1
1604
AAG
Lys
44
1
1605
ATC
Ile
44
1
1606
TCC
Ser
44
1
1607
ATA
Ile
44
1
1608
GGG
Gly
44
1
1609
AAG
Lys
44
1
1610
AAA
Lys
44
1
1611
TCA
Ser
44
1
1612
GTG
Val
44
1
1613
AGT
Ser
44
1
1614
GAC
Asp
44
1
1615
CAG
Gln
44
1
1616
GAT
Asp
44
1
1617
AAC
Asn
44
1
1618
TAC
Tyr
44
1
1619
ATC
Ile
44
1
1620
CCC
Pro
44
1
1621
TGC
Cys
44
1
1622
ACG
Thr
44
1
1623
CTG
Leu
44
1
1624
GAG
Glu
44
1
1625
CCC
Pro
44
1
1626
GTA
Val
44
1
1627
TTT
Phe
44
1
1628
GGA
Gly
44
1
1629
AAG
Lys
44-45
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