Table 3 of
Nallasamy, Mol Vis 2007;
13:229-236.Table 3 of
Nallasamy, Mol Vis 2007;
13:229-236.
Table 3. Observed sequence polymorphisms in the protocadherin 15 (PCDH15) and ZW10 interacter (ZWINT) genes
Affected individual sample numbers are in red. C009, external control; rs, public reference single nucleotide polymorphism (SNP) number from the dbSNP database. Note: Samples C009, 7254, 7256, 7257, and 7272 were sequenced for all exons. Additional samples were sequenced for exons with polymorphisms that initially appeared to segregate with high-grade myopia.
nt at
GenBank
(minus nt AA Sample number
Genes Position strand) changes dbSNP changes (red=affected)
--------- --------------------- ------- ----------- ---------- ------- -----------------
PCDH15
Exon 2 83 bp in Exon 2 T T/G rs11004439 Ser-> C009, 7256
Ala
Intron 2 50 bp, 5' of Exon 3 T G rs10825347 - C009, 7252, 7253
50 bp, 5' of Exon 3 T G/T rs10825347 - 7254, 7245, 7251,
7274, 7256, 7257
Intron 3 4 bp, 3'of Exon3 A A/G Novel - 7254, 7251
Intron 4 31 bp, 5'of Exon5 T T/C rs11594958 - 7256
Intron 7 9 bp, 5'of Exon8 C C/T rs10740579 - C009, 7257, 7272
9 bp, 5'of Exon8 C T rs10740579 - 7254, 7256
Exon 8 4 bp in Exonic C C/T Novel Ala-> C009
Thr
Intron 9 57 bp, 3'of Exon8 T G rs10763098 - 7254
57 bp, 3'of Exon8 T G/T rs10763098 - C009, 7256, 7257,
7272
Intron 9 71 bp, of 5' Exon 9 G A Novel - 7254, 7245
71 bp, of 5' Exon 9 G G/A Novel - C009, 7256, 7257,
7252, 7251
Intron 13 23 bp, of3' Exon13 G G/A rs7093302 - C009, 7256, 7257,
7252, 7274, 7251
Intron 14 43 bp, of5' Exon 15 - Insertion A Novel - C009, 7254, 7256,
7257, 7272
Intron 17 141 bp, 3' of Exon 17 C C/T Novel - 7254, 7257
Intron 20 37 bp, 3' of Exon 20 C C/T Novel - 7256, 7272
Exon 21 35 bp in Exon 21 G G/A rs2135720 Ile-> 7256, 7272
Ile
Intron 21 109 bp, 5' of Exon 22 T T/C Novel - C009, 7254
Intron 22 48 bp, 5' of Exon 23 G G/A rs2593107 - C009, 7254
Intron 25 72 bp, 5' of Exon 26 A A/G Novel - C009, 7254
Intron 25 68 bp, 5' of Exon 26 T T/G Novel - 7254, 7257
Intron 29 20 bp, 5' of Exon 30 C C/T Novel - C009, 7254,
7256, 7257,
7272
Intron 31 188 bp, 3' Exon 31 C C/T Novel - C009, 7254, 7256,
7257, 7272
Intron 32 120 bp, 3' of Exon 33 T T/C Novel - C009, 7254, 7256,
7257, 7272
Exon 33 215 bp, of Exon 33 C C/A Novel Leu-> 7256, 7272
Leu
ZWINT
Intron5 30 bp, 5' of Exon 4 C C/T Novel - 7254, 7257
Intron 3 74 bp, 3' of Exon 3 G A/A rs3861049 - C009, 7254, 7256,
7257, 7272
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