The UMD-DYSF mutations database
Statistics: Sequence of exon 12



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Potential stop codons from exon 12

AA position Wild type codon Wild type AA exon Species
352
CTG
Leu
12
1
353
GAG
Glu
12
1
354
AGA
Arg
12
1
355
AAA
Lys
12
1
356
GAC
Asp
12
1
357
CCC
Pro
12
1
358
TCT
Ser
12
1
359
GAA
Glu
12
1
360
GAC
Asp
12
1
361
AAG
Lys
12
1
362
GAG
Glu
12
1
363
GAC
Asp
12
1
364
ATT
Ile
12
1
365
GAA
Glu
12
1
366
AGC
Ser
12
1
367
AAC
Asn
12
1
368
CTG
Leu
12
1
369
CTC
Leu
12
1
370
CGG
Arg
12
1
371
CCC
Pro
12
1
372
ACA
Thr
12
1
373
GGC
Gly
12
1
374
GTA
Val
12
1
375
GCC
Ala
12
1
376
CTG
Leu
12
1
377
CGA
Arg
12
1
378
GGA
Gly
12
1
379
GCC
Ala
12
1
380
CAC
His
12
1
381
TTC
Phe
12
1
382
TGC
Cys
12
1
383
CTG
Leu
12
1
384
AAG
Lys
12
1
385
GTC
Val
12
1
386
TTC
Phe
12
1
387
CGG
Arg
12
1
388
GCC
Ala
12
1
389
GAG
Glu
12
1
390
GAC
Asp
12
1
391
TTG
Leu
12
1
392
CCG
Pro
12
1
393
CAG
Gln
12
1
394
ATG
Met
12-13
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