Table 1 of Miyazawa, Mol Vis 2007; 13:1912-1919.


Table 1. WDR36 sequence alteration in patients with high tension glaucoma/normal tension glaucoma

The asterisk indicates a previously designated amino acid polymorphism. The double asterisk shows a previously designated predicted disease-causing mutation. p.V714V and p.V727V was reported by Monemi et al. [18]. The sharp (hash mark) indicates the homozygote (T/T). The OAG and Control columns are as reported by Monemi et al. [18]. The nomenclature used was based on GenBank NM_139281. Abbreviations used are: HTG; High tension glaucoma, NTG; Normal tension glaucoma.

   Non-synonymous amino acid change

                                                                                 Reported by Monemi
         Amino                            Detected in this study                    et al. [18]
         acid        cDNA      ---------------------------------------------     ------------------
Exon    change      change      HTG     p-value    NTG     p-value   Control      OAG       Control
----   ---------   ---------   ------   -------   ------   -------   -------     ------     -------
7      p.I264V*    c.790A>G    75/136    0.01     29/103    0.12     46/118      67/130       -
7      p.M283R     c.848T>G     0/136    0.02      1/103    0.22      5/118        ND         ND
8      p.N355S**   c.1064A>G    0/136     -        0/103     -        0/118       1/130      0/200
11     p.A449T**   c.1345G>A    0/136     -        0/103     -        0/118       2/130      0/200
13     p.R529Q**   c.1586G>A    0/136     -        0/103     -        0/118       1/130      0/200
17     p.D658G**   c.1973A>G    0/136     -        0/103     -        0/118      13/670      0/476
17     p.S664L     c.1991C>T    1/136    1.0       0/103     -        0/118        ND         ND

   Synonymous amino acid change

                                                 Detected in this study
        Amino                   --------------------------------------------------------
         acid                     HTG                     NTG                    Control
Exon   sequence   cDNA change   (n=136)     p-value     (n=103)      p-value     (n=118)
----   --------   -----------   -------   -----------   --------   -----------   -------
4      p.D179D    c.537T>C         1          1.0          0            -           0
7      p.Q270Q    c.810A>G         1          1.0          0            -           0
12     p.G459G    c.1377T>C        0           -           1          0.47          0
17     p.S664S    c.1992G>A        1          1.0          0            -           0
18     p.V714V*   c.2142C>G        3          0.71         4          0.99          4
19     p.V727V*   c.2181A>T      68(4#)   0.26 (0.52)   27 (0#)    0.02 (0.03)   50 (6#)
19     p.P744P    c.2232A>G        0           -           1          0.47          0

   Intronic change

                                                                         Reported by Monemi
                                     Detected in this study                 et al. [18]
                         ---------------------------------------------   ------------------
Intron    Base change     HTG     p-value    NTG     p-value   Control    OAG       Control
------   -------------   ------   -------   ------   -------   -------   ------     -------
7        c.898+63C>G     1/136     1.0       0/103      -       0/118      ND         ND
8        c.1074+20C>T    6/136     0.03      5/103    0.02      0/118      ND         ND
12       c.1494+90C>T    84/136    0.10     44/103    0.28     60/118    86/130        -
         rs10043631
12       c.1494+143A>G   84/136    0.10     44/103    0.28     60/118      ND         ND
         rs10038058
13       c.1609+89G>A    79/136    0.01     27/103    0.02     49/118    24/130        -
         rs34962120
14       c.1775+89C>A    80/136    0.04     36/103    0.13     54/118    71/130        -
         rs13161853
15       c.1884+26C>G    2/136     0.50      0/103      -       0/118      ND         ND
16       c.1965-30A>G    73/136    0.03     27/103    0.06     46/118    57/130        -
         rs17553936
18       c.2170+217C>T   3/136     0.71      4/103    1.0       4/118    21/130        -
         rs17554123
21       c.2518+60G>C    4/136     0.74      6/103    0.76      5/118    13/130        -
         rs2290680

Miyazawa, Mol Vis 2007; 13:1912-1919 <http://www.molvis.org/molvis/v13/a215/>
©2007 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535