Table.

Mutations Described in ENAM

Genomic DNAa	cDNAb	Locationc	Proteind	Phenotype	Inheritance	Reference
g.2382A>T	c.157A>T	Exon 5	p.K53X	Local hypoplastic	AD	Mardh et al., 2002
g.4806A>C	IVS6-2A>C; c.211-2A>C	Intron 6	p.M71_Q157del	Hypoplastic	AD	Kim et al., 2005b
g.6395G>A	IVS8+IG>A; c.534+1G>A	Intron 8	p.A158_QI78de1 or p. Q 178fsX 191	Smooth hypoplastic	AD	Rajpar et al., 2001; Hu and Yamakoshi, 2003
g.8344de1G	IV S9+I delG; c.588+1delG	Intron 9	p.N197fsX277	Smooth hypoplastic	AD	Kida et al., 2002; PS Hart et al., 2003; Kim et al., 2005b
g.12663C>A	c.737C>A	Exon 10	p.S246X	Local hypoplastic	AD	This report
g.13185_13186insAG	c.1258_1259insAG	Exon 10	p.P422fsX448	Generalized thin hypoplastic (recessive trait); Localized, circum- scribed pitting (dominant trait)	AR-AI; AD-localized enamel pitting	TC Hart et al., 2003
g.12946_ 12947insAG TCAGTACCAGTAC TGTGTC	c.1020_IO21insAGTC AGTACCAGTACTGT GTC	Exon 10	p.V340_M341ins SQYQYCV	Generalized thin hypo- plastic (recessive trait); Localized, circum- scribed pitting (dominant trait)	AR-AI AD-localized enamel pitting	This report

^aReference sequence for GenBank accession No. AY167999; the A of the initiator ATG is taken as +1.

^bReference sequence for GenBank accession No. AF125373; the A of the initiator ATG is taken as +1.

^cExonic numbering assumes 10 exons as described in PS Hart et al. 2003. Mutations reported prior to the publication of these nomenclature guidelines have the corresponding exons listed one less than in this Table, i.e., exon 4 as listed in Mardh et al. 2002 is considered exon 5 according to the nomenclature guidelines.

^dInitiator methionine as the +1 position.

AD, Autosomal-dominant; AR, Autosomal-recessive.