Table 2 of
Tada, Mol Vis 2006;
12:441-444.Table 2 of
Tada, Mol Vis 2006;
12:441-444.
Table 2. Allele frequencies of DNA sequence changes in the MERTK gene
Data are from the mutation screening of 96 unrelated patients with arRP and 100 normal controls. The numbers of patients with wild type (wt), heterozygous sequence changes (het), and homozygous sequence changes (hom) are given.
ARRP patients Normal control
----------------------- -----------------------
Minor Minor
Predicted allele allele
Location DNA changes effect wt:het:homo frequency wt:het:homo frequency
-------- ---------------------- --------- ----------- --------- ----------- ---------
Exon1 c.172T->C Leu12Pro 95: 0: 1 0.010 100: 0: 0 0
Intron1 IVS1-18G->A No effect 92: 1: 0 0.005 98: 2: 0 0.010
Exon2 c.480T->G Cys115Gly 94: 1: 0 0.005 100: 0: 0 0
Exon2 c.490A->G Asn118Ser 0:14:81 0.926 1:14:85 0.924
Intron2 IVS2+68insTTTATTTATTTA No effect 93: 0: 2 0.021 98: 0: 2 0.020
Intron3 IVS3+10C->T No effect 64:17: 1 0.131 82:17: 1 0.104
Exon4 c.893A->G Pro252Pro 87: 8: 0 0.043 94: 6: 0 0.030
Intron4 IVS4+13T->C No effect 63:31: 1 0.210 62:36: 2 0.250
Intron4 IVS4+51G->T No effect 65:28: 2 0.202 62:36: 2 0.250
Exon9 c.1534G->A Arg466Lys 48:25: 2 0.239 60:38: 2 0.265
Exon10 c.1631C->T Asn498Asn 69:20: 1 0.139 79:21: 0 0.117
Exon10 c.1689A->G Ile518Val 54:34: 2 0.267 61:38: 1 0.250
Exon14 c.2018T->G Ser627Ser 54:35: 2 0.272 62:37: 1 0.242
Intron14 IVS14-42A->G No effect 60:10: 1 0.092 80:20: 0 0.111
Intron15 IVS15-11C->A No effect 67: 0: 1 0.014 96: 3: 1 0.025
Intron18 IVS18-143T->C No effect 63:16: 2 0.140 79:20: 1 0.123
Exon19 c.2863G->A Arg909His 85: 1: 0 0.005 100: 0: 0 0
|