The UMD-DYSF mutations database
Statistics: Sequence of exon 53

Your request has been succesfully submitted to the UMD-DYSF database.

Potential stop codons from exon 53

AA position	Wild type codon	Wild type AA	exon	Species
1983	GGC	Gly	53	1
1984	AAG	Lys	53	1
1985	CTG	Leu	53	1
1986	GAA	Glu	53	1
1987	ATG	Met	53	1
1988	ACC	Thr	53	1
1989	TTG	Leu	53	1
1990	GAG	Glu	53	1
1991	ATT	Ile	53	1
1992	GTA	Val	53	1
1993	GCA	Ala	53	1
1994	GAG	Glu	53	1
1995	AGT	Ser	53	1
1996	GAG	Glu	53	1
1997	CAT	His	53	1
1998	GAG	Glu	53	1
1999	GAG	Glu	53	1
2000	CGG	Arg	53	1
2001	CCT	Pro	53	1
2002	GCT	Ala	53	1
2003	GGC	Gly	53	1
2004	CAG	Gln	53	1
2005	GGC	Gly	53	1
2006	CGG	Arg	53	1
2007	GAT	Asp	53	1
2008	GAG	Glu	53	1
2009	CCC	Pro	53	1
2010	AAC	Asn	53	1
2011	ATG	Met	53	1
2012	AAC	Asn	53	1
2013	CCT	Pro	53	1
2014	AAG	Lys	53	1
2015	CTT	Leu	53	1
2016	GAG	Glu	53	1
2017	GAC	Asp	53	1
2018	CCA	Pro	53	1
2019	AGG	Arg	53-54	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