Table 2 of
Maraini, Mol Vis 2003;
9:397-400.Table 2 of
Maraini, Mol Vis 2003;
9:397-400.
Table 2. Distribution of GALK1 gene sequence changes and associated amino acid changes among cataractous and control individuals.
Exon/ Codon
intron SNP change Cataracts Controls p value
--------- ------------ ------ --------- -------- -------
Exon 2 c.252G->A L63L 1(N) 0 >0.99
(56-118) c.315G->A E84E 1(C) 0 >0.99
Exon 4 c.615C->G I184M 0 1 0.38
(159-203)
Intron 4 IVS4+34G->A 1(N) 1 >0.99
Exon 6 c.884G->A G274D 1(C) 0 >0.99
(264-314)
Exon 7 c.1076T->C V338A 1(N) 0 >0.99
(315-368) c.1119G->A T352T 1(PN) 0 >0.99
Intron 7 IVS7+43C->T 48 36 0.27
SNP rs743554
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