Table 2 AGXT point variations detected in the studied patients with PH1
Family | Patient | Nucleotide change | Position | State | Codon/Effect | Ref |
|---|---|---|---|---|---|---|
Family F1 | P1 | c.32C > T | Exon 1 | Hom | p.Pro11Leu | Purdue et al., 1990 |
Dup 74pb | Intron 1 | Hom | Non coding | Purdue et al., 1991 | ||
c.264C > T | Exon 2 | Hom | p.Ala88Ala | Danpure et al., 1994 | ||
c.358 + 13C > T | Intron 2 | Hom | Non coding | Von Schnakenburg, 1998 | ||
c.524 + 91C > T | Intron 4 | Hom | Non coding | Monico et al., 2007 | ||
c.680 + 17C > T | Intron 6 | Hom | Non coding | Monico et al., 2007 | ||
c.731 T > C | Exon 7 | Het | p.Ile244Thr | Von Schnakenburg and Rumsby, 1997 | ||
c.777-45C > T | Intron 7 | Hom | Non coding | Von Schnakenburg, 1998 | ||
c.777-44A > G | Intron 7 | Hom | Non coding | Monico et al., 2007 | ||
c.846 + 52G > A | Intron 8 | Hom | Non coding | Monico et al., 2007 | ||
c.1020A > G | Exon 10 | Hom | p.Ile340Met | Purdue et al., 1992 | ||
c.41C > A | 3’UTR | Het | Non coding | Von Schnakenburg and Rumsby, 1997 | ||
P2 and P3 | c.32C > T | Exon 1 | Het | p.Pro11Leu | Purdue et al., 1990 | |
c.33_34insC | Exon 1 | Het | p.Lys12GlnfsX156 | Pirilli et al., 1999 | ||
Dup 74pb | Intron 1 | Het | Non coding | Purdue et al., 1991 | ||
c.264C > T | Exon 2 | Het | p.Ala88Ala | Danpure et al., 1994 | ||
c.358 + 13C > T | Intron 2 | Het | Non coding | Von Schnakenburg, 1998 | ||
c.524 + 91C > T | Intron 4 | Het | Non coding | Monico et al., 2007 | ||
c.680 + 17C > T | Intron 6 | Het | Non coding | Monico et al., 2007 | ||
c.731 T > C | Exon 7 | Het | p.Ile244Thr | Von Schnakenburg and Rumsby, 1997 | ||
c.777-45C > T | Intron 7 | Het | Non coding | Von Schnakenburg, 1998 | ||
c.777-44A > G | Intron 7 | Het | Non coding | Monico et al., 2007 | ||
c.846 + 52G > A | Intron 8 | Het | Non coding | Monico et al., 2007 | ||
c.1020A > G | Exon 10 | Het | p.Ile340Met | Purdue et al., 1992 | ||
c.41C > A | 3’UTR | Het | Non coding | Von Schnakenburg and Rumsby, 1997 | ||
Family F2 | Patient P4 | c.26C > A | Exon 1 | Het | p.Thr9Asn | Monico et al., 2005 |
c.65A > G | Exon 1 | Het | p.Asn22Ser | Williams et al., 2009 | ||
c.524 + 91C > T | Intron 4 | Het | Non coding | Monico et al., 2007 | ||
c.777-44A > G | Intron 7 | Hom | Non coding | Monico et al., 2007 | ||
c.777-77A > G | Intron 7 | het | Non coding | This paper | ||
c.41C > A | 3’UTR | Het | Non coding | Von Schnakenburg and Rumsby, 1997 |