Table 2 of
Dash, Mol Vis 2006;
12:499-505.Table 2 of
Dash, Mol Vis 2006;
12:499-505.
Table 2. Sequence variations segregated with disease haplotype of keratoconus with cataract
These sequence variants did not reveal a clear pathogenic mutation causing the disease. The naming systems of DNA change is from the nomenclature of the (Human Genome Variation Society).
Location Amino acid
Gene DNA change in the gene change Comment
------- ----------------------- -------------- ----------- ---------------------
MTHFS -475A>C Promoter Novel SNP
ARNT2 c.1503+27G>C Intron 8 Novel SNP
ARNT2 c.2028 G>A Exon 19 Known SNP (rs4072568)
(Untranslated)
P24B -249G>T Promoter Novel SNP
P24B -82G>A Promoter Novel SNP
ADAMTS7 c.1468-4G>A Intron 9 Novel SNP
ADAMTS7 c.1530C>T Exon 10 p.Ala510Ala Novel synonymous SNP
ADAMTS7 c.2223T>C Exon 15 p.Ser741Ser Novel synonymous SNP
ADAMTS7 c.2645+179C>T Intron 17 Novel SNP
ADAMTS7 c.4267-42A>G Intron 19 Novel SNP
ADAMTS7 c.4267-44C>T Intron 19 Novel SNP
ADAMTS7 c.4419+5 A>G Intron 20 Novel SNP
ADAMTS7 3'+42C>T (c.5061+42C>T) 3' UTR Novel SNP
ADAMTS7 3'+4T>C (c.5061+4T>C) 3' UTR Known SNP (rs12286)
CTSH c.77C>G Exon 1 p.Ser29Ser Known synonymous SNP
(rs3190230)
CTSH c.1-1T>G 5' UTR Known SNP (rs1036939)
RASGRF1 c.1826+37T>A Intron 13 Known SNP (rs3816283)
IREB2 c.20-127A>G Intron 1 Novel SNP
IREB2 c.583+58G>A Intron 7 Known SNP (rs8036042)
IREB2 c.583+19 A>G Intron 7 Known SNP (rs3817092)
PSMA4 c.1-97 G>T 5' UTR Known SNP (rs3813571)
PSMA4 c.720 C>T Exon 9 p.His240His Known synonymous SNP
(rs8053)
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