Table 2 of Sud, Mol Vis 2008; 14:1319-1326.

Table 2. DNA sequence variants in candidate genes located within the GLC1K refined region.

Gene (Mb) Ocular expression Function Sequence variant Family Individual
BMP2 (6.7) Lens, fetal eye Member of TGFB superfamily c.1946 C>T D387D rs13037675 JOAG-25 III-2

c.2220 A>C 3′ UTR JOAG-52 II-1
PLCB1 (8.6) Retina, fetal eye Intracellular transduction of extracellular signals c.105 C>T D34D rs16994453 JOAG-25 III-2
c.2085 C>T G694G rs3761170 JOAG-25 III-2
c.2202 A>G V733V rs8118206 JOAG-52 II-1
c.2568 C>T A855A rs2076413 JOAG-25 III-2
c.2991 A>G A996A rs2235613 JOAG-52 II-1
PLCB4 (9.4) Ciliary body, trabecular meshwork, retina, retinal pigment epithelium Intracellular transduction of extracellular signals in the retina c.197 A>GA21T rs6077510 JOAG-52 JOAG-25 II-1, III-2
BTBD3 (11.6) Retina, iris, fetal eye Protein–protein interaction; DNA binding protein c.909 G>A A303A rs35364034 JOAG-52 II-1

IVS2+12G>A JOAG-52 II-1

The DNA sequence variants identified by genomic sequencing of all exons and flanking intron sequences are shown for each candidate gene. Expression data are from the Stanford SOURCE database.

Sud, Mol Vis 2008; 14:1319-1323. http://www.molvis.org/molvis/v14/a159

©2008 Molecular Vision http://www.molvis.org/molvis/

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