Table 3. Observed sequence polymorphisms in the protocadherin 15 (PCDH15) and ZW10 interacter (ZWINT) genes.
|
Genes |
Position |
nt at GenBank (minus strand) |
nt changes |
dbSNP |
AA changes |
Sample number (red=affected) |
| PCDH15 | ||||||
| Exon 2 |
83 bp in Exon 2 |
T |
T/G |
rs11004439 |
Ser->Ala |
C009, 7256 |
| 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->Thr |
C009 |
| 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->Ile |
7256, 7272 |
| 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->Leu |
7256, 7272 |
| 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 |
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.