Table 2. Sequence changes identified in the GRM6 gene
|
Exon/ Intron |
Change |
cDNA |
Patients, hom:het:wt |
Controls, hom:het:wt |
|
Exon 1 |
Ala-7 → Thr GCC-ACC |
c.19G>A |
0:0:26 |
0:2:176 |
|
Exon 1 |
Arg-28 → His CGC-CAC |
c.83G>A |
0:0:26 |
0:1:177 |
|
Exon 1 |
Pro-59 → Gln CCG-CAG |
c.176C>A |
5:12:9 |
25:88:65 |
|
Exon 1 |
Pro-87 → Pro CCC-CCT |
c.261C>T |
0:0:26 |
0:1:177 |
|
Exon 1 |
Phe-112 → Phe TTC-TTT |
c.336C>T |
1:0:25 |
0:0:178 |
|
Exon 1 |
Arg-118 → Ser CGC-AGC |
c.352C>A |
0:0:26 |
0:1:177 |
|
Exon 1 |
Gly150 → Ser GGC-AGC |
c.448G>A |
0:1:25 |
0:0:178 |
|
Intron 1 |
IVS1+66A>C |
N/A |
0:1:25 |
0:2:85 |
|
Exon 2 |
Glu-222 → Lys GAG-AAG |
c.664G>A |
0:1:25 |
0:0:181 |
|
Exon 2 |
Gly-229 → Glu GGG-GAG |
c.686G>A |
0:1:25 |
0:0:181 |
|
Intron 2 |
IVS2+83G>T |
N/A |
0:1:25 |
0:0:181 |
|
Exon 3 |
Val-243 → Phe GTC-TTC |
c.727G>T |
0:1:25 |
0:2:179 |
|
Exon 3 |
Ile-245 → Val ATT-GTT |
c.733A>G |
0:0:26 |
0:1:180 |
|
Exon 5 |
Asp-377 → Asp GAT-GAC |
c.1131T>C |
1:9:16 |
ND |
|
Intron 5 |
IVS5+53_54ins TGGGGAGGG |
N/A |
5:9:12 |
ND |
|
Exon 6 |
Tyr-409 → Tyr TAT-TAC |
c.1227T>C |
5:9:12 |
ND |
|
Exon 6 |
Asn-451 → Asn AAC-AAT |
c.1353C>T |
5:9:12 |
ND |
|
Exon 7 |
Gly-464 → Gly GGG-GGA |
c.1392G>A |
4:8:14 |
ND |
|
Intron 7 |
IVS7+23 G>A |
N/A |
4:8:14 |
ND |
|
Exon 8 |
Cys-522 → Cys TGC-TGT |
c.1566C>T |
0:0:26 |
0:2:177 |
|
Exon 8 |
Arg-578 → Cys CGC-TGC |
c.1732C>T |
0:0:26 |
0:2:177 |
|
Exon 8 |
Ser-583 → Phe TCC-TTC |
c.1748C>T |
0:1:25 |
0:0:179 |
|
Exon 8 |
Pro-589 → Leu CCG-CTG |
c.1766C>T |
0:0:26 |
0:2:177 |
|
Exon 8 |
Val-616 → Val GTC-GTT |
c.1848C>T |
0:0:26 |
0:1:178 |
|
Exon 8 |
Arg-621 → END CGA-TGA |
c.1861C>T |
1:0:25 |
0:0:179 |
|
Exon 8 |
Tyr-625 → Tyr TAC-TAT |
c.1875C>T |
0:0:26 |
0:1:188 |
|
Exon 8 |
Thr-629 → Thr ACC-ACT |
c.1887C>T |
0:0:26 |
0:1:188 |
|
Exon 8 |
Ala-648 → Ala GCG-GCT |
c.1944G>T |
0:0:26 |
0:2:187 |
|
Exon 8 |
Ala-651 → Ala GCC-GCT |
c.1953C>T |
0:0:26 |
0:6:183 |
|
Exon 8 |
Ala-652 → Ala GCC-GCT |
c.1956C>T |
0:0:26 |
0:1:188 |
|
Exon 8 |
Arg-653 → His CGC-CAC |
c.1958G>A |
0:0:26 |
0:2:187 |
|
Exon 8 |
Leu-698 → Val CTG-GTG |
c.2092C>G |
0:1:25 |
0:3:186 |
|
Exon 8 |
Gln-708 → END CAG-TAG |
c.2122C>T |
0:1:25 |
0:0:189 |
|
Intron 8 |
IVS8-12 T>C |
N/A |
0:3:23 |
0:12:172 |
|
Exon 9 |
Met-712 → Val ATG-GTG |
c.2134A>G |
0:3:23 |
0:12:172 |
|
Exon 9 |
Thr-732 → Thr ACG-ACA† |
c.2196G>A |
0:5:21 |
7:50:127 |
|
Exon 9 |
Glu-781 → Lys GAG-AAG |
c.2341G>A |
1:0:25 |
0:0:184 |
|
Exon 9 |
Phe-799 → Phe TTC-TTT |
c.2397C>T |
1:4:21 |
4:24:156 |
|
Exon 9 |
Ala-807 → Val GCC-GTC |
c.2420C>T |
0:2:24 |
4:24:156 |
|
Intron 9 |
IVS9+46 A>C |
N/A |
0:3:23 |
0:12:172 |
|
Intron 9 |
IVS9+55 G>A |
N/A |
8:11:7 |
25:47:122 |
|
Intron 9 |
IVS9-6 G>A |
N/A |
0:3:23 |
ND |
|
Exon 10 |
*59A>C |
N/A |
0:3:23 |
ND |
Changes are ordered 5' to 3'. Changes in bold (second column) were interpreted as pathogenic (see text). Columns 4 and 5 list the numbers of individuals who were homozygous (hom) for the minor allele, heterozygous (het) and homozygous for the wild-type (wt) sequence. N/A, not applicable; ND, not determined.
†
For the exon 9 change Thr-732 → Thr, "A" is the published base at this position but it is the less frequent base among our subjects.