Mutations of the Human Glutamate receptor, metabotropic 6
(GRM6)
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Mutation Database Mutations of the Human Glutamate receptor, metabotropic 6 (GRM6) |
| Phenotype | Mutation | Basechange | Nucleotide | Exon | Restriction Site | Classification & Remarks |
Mutation Database | OMIM | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Sequence |
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The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the translation start site as recommended by HGVS.
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| Polymorphism | Ala 7 Thr | GCC>ACC | c.0019 | 01 |
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(1)
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| CSNB | 57_75dup19bp | GGC CTG>GGC GTG GCT GGC GCA GGC GGG CCT G | c.0057 | 01 |
Heterozygous Compound
21974,21973,26162 |
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(2)
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| Polymorphism | Arg 28 His | CGC>CAC | c.0083 | 01 |
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(1)
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| CSNB | Pro 46 Leu | CCG>CTG | c.0137 | 01 |
Heterozygous Compound
2445 |
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(2)
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| CSNB | Gly 58 Arg | GGG>CGG | c.0172 | 01 |
Heterozygous Compound
21974,21973,26162 |
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(2)
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| Polymorphism | Pro 59 Gln | CCG>CAG | c.0176 | 01 |
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(1)
(2) |
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| Polymorphism | Pro 87 Pro | CCC>CCT | c.0261 | 01 |
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(1)
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| Polymorphism | Phe 112 Phe | TTC>TTT | c.0336 | 01 |
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(1)
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| Polymorphism | Arg 118 Ser | CGC>AGC | c.0352 | 01 |
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(1)
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| CSNB | Gly 150 Ser | GGC>AGC | c.0448 | 01 |
Heterozygous Compound
063-007 |
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(1)
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| Polymorphism | IVS1+66a>c | ccaag>cccag | c.0504 | IVS 1 |
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(1)
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| Polymorphism | Glu 222 Lys | GAG>AAG | c.0664 | 02 |
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(1)
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| Polymorphism | Gly 229 Glu | GGG>GAG | c.0686 | 02 |
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(1)
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| Polymorphism | IVS2+83g>t | ggggg>ggtgg | c.0721 | IVS 2 |
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(1)
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| Polymorphism | Val 243 Phe | GTC>TTC | c.0727 | 03 |
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(1)
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| CSNB | 728insG | ccag GG GGG GTC>ccag GG GGG GGT C | c.0728 | 03 |
Heterozygous Compound
Reported as 729insG 2445 |
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(2)
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| Polymorphism | Ile 245 Val | ATT>GTT | c.0733 | 03 |
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(1)
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| Polymorphism | Asp 377 Asp | GAT>GAC | c.1131 | 05 |
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(1)
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| Polymorphism | IVS5+53ins9bp | agggtg>aggtggggaggggtg | c.1153 | IVS 5 |
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(1)
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| Polymorphism | Tyr 409 Tyr | TAT>TAC | c.1227 | 06 |
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(1)
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| Polymorphism | Asn 451 Asn | AAC>AAT | c.1353 | 06 |
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(1)
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| Polymorphism | Gly 464 Gly | GGG>GGA | c.1392 | 07 |
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(1)
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| Polymorphism | IVS7+23g>a | ccagg>ccggg | c.1500 | IVS 7 |
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(1)
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| CSNB | Cys 522 Tyr | TGC>TAC | c.1565 | 08 |
Homozygous
Characteristic ERG at -0.42 and -0.26 log scot td s in 15 Hz-flicker 2496 |
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(2)
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| Polymorphism | Cys 522 Cys | TGC>TGT | c.1566 | 08 |
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(1)
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| Polymorphism | Arg 578 Cys | CGC>TGC | c.1732 | 08 |
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(1)
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| Polymorphism | Ser 583 Phe | TCC>TTC | c.1748 | 08 |
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(1)
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| Polymorphism | Pro 589 Leu | CCG>CTG | c.1766 | 08 |
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(1)
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| Polymorphism | Val 616 Val | GTC>GTT | c.1848 | 08 |
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(1)
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| CSNB | Arg 621 ter | CGA>TGA | c.1861 | 08 |
Homozygous
274-011 |
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(1)
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| Polymorphism | Tyr 625 Tyr | TAC>TAT | c.1875 | 08 |
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(1)
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| Polymorphism | Thr 629 Thr | ACC>ACT | c.1887 | 08 |
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(1)
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| Polymorphism | Ala 648 Ala | GCG>GCT | c.1944 | 08 |
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(1)
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| Polymorphism | Ala 651 Ala | GCC>GCT | c.1953 | 08 |
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(1)
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| Polymorphism | Ala 652 Ala | GCC>GCT | c.1956 | 08 |
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(1)
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| Polymorphism | Arg 653 His | CGC>CAC | c.1958 | 08 |
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(1)
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| Polymorphism | Leu 698 Val | CTG>GTG | c.2092 | 08 |
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(1)
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| CSNB | Gln 708 ter | CAG>TAG | c.2122 | 08 |
Heterozygous Compound
063-007 |
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(1)
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| Polymorphism | IVS8-12t>c | cctgc>cccgc | c.2125 | IVS 8 |
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(1)
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| Polymorphism | Met 712 Val | ATG>GTG | c.2134 | 09 |
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(1)
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| Polymorphism | Thr 732 Thr | ACG>ACA | c.2196 | 09 |
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(1)
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| CSNB | Glu 781 Lys | GAG>AAG | c.2341 | 09 |
Homozygous
274-021 |
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(1)
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| Polymorphism | Phe 799 Phe | TTC>TTT | c.2397 | 09 |
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(1)
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| Polymorphism | Ala 807 Val | GCC>GTC | c.2420 | 09 |
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(1)
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| Polymorphism | IVS9+46a>c | tcagg>tccgg | c.2436 | IVS 9 |
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(1)
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| Polymorphism | IVS9+55g>a | tcgat>tcaat | c.2436 | IVS 9 |
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(1)
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| Polymorphism | IVS9-6g>a | tggcc>tgacc | c.2436 | IVS 9 |
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(1)
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| Polymorphism | 2690A>C | cgagg>cgcgg | c.2690 | 10 |
Reported as *59A>C
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(1)
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References
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This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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