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. 1999 Apr 27;96(9):5117–5122. doi: 10.1073/pnas.96.9.5117

Table 3.

Polymorphisms of the hptc gene

Exon/intron Polymorphism Effect on coding
Exon 5 A or G at 723 No change Thr-245
Intron 5 T or C 55 bp 5′ of exon 6
Exon 11 C or T at 1540 No change Leu-518
Exon 13 C or T at 2161 Pro/Ser at 725
Exon 13 A or G at 2187 No change Ser-733
Intron 14 G or C 8 bp 3′ of exon 14
Exon 19 A or G at 3313 Ser/Glu at 1,109

The hptc gene alterations characterized as polymorphisms in this study are indicated on the coding strand, written 5′ to 3′ as described by Hahn et al. (4), and the eventual modifications on amino acids are numbered as described by Johnson et al. (5).