Molecular Vision: Clausen, Mol Vis 2010; 16:954-960. Table 1

Table 1. Review of known mutations in the keratin 3 and keratin 12 genes causing MECD.

Gene	Exon	Codon number	Codon change	Amino acid change	References
KRT3	7	498	GAG-GTG	Glu-Val	[10]
	7	503	CGC-CCC	Arg-Pro	[11]
	7	509	GAG-AAG	Glu-Lys	[8]
KRT12	1	129	ATG-GTG	Met-Val	Current Report
	1	129	ATG-ACG	Met-Thr	[9]
	1	130	CAA-CCA	Gln-Pro	[12]
	1	132	CTT-CAT	Leu-His	[13]
	1	133	AAT-AAG	Asn-Lys	[14]
	1	135	AGA-ACA	Arg-Thr	[8]
	1	135	AGA-ATA	Arg-Ile	[15]
	1	135	AGA-AGC	Arg-Ser	[16]
	1	135	AGA-GGA	Arg-Gly	[15]
	1	137	GCT-CCT	Ala-Pro	[17]
	1	140	CTG-CGG	Leu-Arg	[15]
	1	143	GTG-CTG	Val-Leu	[8]
	1	143	GTG-TTG	Val-Leu	[18]
	6		1222ins27	400ins9	[16]
	6	426	ATT-AGT	Ile-Ser	[19]
	6	426	ATT-GTT	Ile-Val	[20]
	6	429	TAT-GAC	Tyr-Asp	[15]
	6	429	TAT-TGT	Tyr-Cys	[11]
	6	430	CGC-CCC	Arg-Pro	[21]
	6	433	CTG-CGG	Leu-Arg	[22]