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 |