Table.
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 |
Reference sequence for GenBank accession No. AY167999; the A of the initiator ATG is taken as +1.
Reference sequence for GenBank accession No. AF125373; the A of the initiator ATG is taken as +1.
Exonic 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.
Initiator methionine as the +1 position.
AD, Autosomal-dominant; AR, Autosomal-recessive.