Table 1 of
Fan, Mol Vis 2005;
11:625-631.Table 1 of
Fan, Mol Vis 2005;
11:625-631.
Table 1. MYOC polymorphisms observed in this study
187 HTG patients had been previously reported [15] and from them R91X, E300K, and Y471C were each found in one patient. The numbers under "Genotype frequency" are the counts of homozygotes, heterozygotes, and wildtype.
Allele frequency (percentage) Genotype frequency
---------------------------------- -------------------------------
Sequence Codon HTG NTG Control HTG NTG Control
Location change change (n=588) (n=212) (n=562) (n=294) (n=106) (n=281)
-------- ---------- ------ ---------- --------- --------- --------- -------- --------
Exon 1 c.34G>C G12R 3 (0.5) 1 (0.5) 4 (0.7) 0/ 3/291 0/ 1/105 0/ 4/277
Exon 1 c.49G>T A17S 0 (0.0) 0 (0.0) 1 (0.2) 0/ 0/294 0/ 0/106 0/ 1/280
Exon 1 c.57G>T Q19H 2 (0.3) 0 (0.0) 0 (0.0) 0/ 2/292 0/ 0/106 0/ 0/281
Exon 1 c.136C>T R46X 6 (1.0) 2 (0.9) 7 (1.2) 0/ 6/288 0/ 2/104 0/ 7/274
Exon 1 c.227G>A R76K 38 (6.5) 16 (7.5) 51 (9.1) 0/ 38/256 0/16/ 90 1/49/231
Exon 1 c.271C>T R91X 1 (0.2) 0 (0.0) 0 (0.0) 0/ 1/293 0/ 0/106 0/ 0/281
Exon 1 c.284T>C L95P 0 (0.0) 0 (0.0) 1 (0.2) 0/ 0/294 0/ 0/106 0/ 1/280
Exon 2 c.624C>G D208E 2 (0.3) 0 (0.0) 2 (0.4) 0/ 2/292 0/ 0/106 0/ 2/279
Exon 3 c.734G>A C245Y 1 (0.2) 0 (0.0) 0 (0.0) 0/ 1/293 0/ 0/106 0/ 0/281
Exon 3 c.898G>A, E300K 1 (0.2) 0 (0.0) 0 (0.0) 0/ 1/293 0/ 0/106 0/ 0/281
c.900G>A
Exon 3 c.938C>T S313F 1 (0.2) 0 (0.0) 0 (0.0) 0/ 1/293 0/ 0/106 0/ 0/281
Exon 3 c.1058C>T T353I 9 (1.5) 3 (1.4) 4 (0.7) 0/ 9/285 0/ 3/103 0/ 4/277
Exon 3 c.1412A>G Y471C 1 (0.2) 0 (0.0) 0 (0.0) 0/ 1/293 0/ 0/106 0/ 0/281
Exon 1 c.369C>T T123T 2 (0.3) 0 (0.0) 4 (0.7) 0/ 2/292 0/ 0/106 0/ 4/277
Exon 1 c.384G>C R128R 1 (0.2) 0 (0.0) 0 (0.0) 0/ 1/293 0/ 0/106 0/ 0/281
Exon 1 c.402A>G Q134Q 1 (0.2) 0 (0.0) 0 (0.0) 0/ 1/293 0/ 0/106 0/ 0/281
Exon 3 c.780A>G A260A 1 (0.2) 0 (0.0) 0 (0.0) 0/ 1/293 0/ 0/106 0/ 0/281
Exon 3 c.864C>T I288I 1 (0.2) 0 (0.0) 3 (0.5) 0/ 1/293 0/ 0/106 0/ 3/278
Exon 3 c.1464C>T A488A 1 (0.2) 0 (0.0) 0 (0.0) 0/ 1/293 0/ 0/106 0/ 0/281
Promoter -83G>A - 37 (6.3) 17 (8.0) 50 (8.9) 0/ 37/257 0/17/ 89 1/48/232
Intron 2 IVS2+35A>G - 119 (20.2) 55 (25.9) 91 (16.2) 9/101/184 7/41/ 58 3/85/193
3'UTR 1515+73G>C - 5 (0.9) 0 (0.0) 6 (1.1) 0/ 5/289 0/ 0/106 0/ 6/275
|