Table 3 of Fang, Mol Vis 2008; 14:1974-1982.

Table 3. GPR143 mutations identified in six Chinese families with OA1


Patients		 Nucleotide
change		 Exon/
intron
Effect
Family 1 c.849delT e7 p.Val284SerfsX15
Family 2 c.238_240delCTC e1 p.Leu80del
Family 3 c.658+1G>A i5 Loss of splicing acceptor
Family 4* c.353G>A e2 p.Gly118Glu
Family 5 g.1103_7266del6164 Loss of exons 2 and 3 p.Gly84AlafsX65
Family 6 g.25985_26546del562 Loss of exons 8 p.Gly296ValfsX26

Five novel and one known mutations were identified in six Chinese families. The mutation was named according to the nomenclature recommended by Human Genomic Variation Society (HGVS). In the third column, i5 stands for intron 5. The asterisk indicates that the mutation has been previously reported.

Fang, Mol Vis 2008; 14:1974-1982. http://www.molvis.org/molvis/v14/a233

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

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