Scientific Mutation Database
Mutations of the Human Glutamate receptor, metabotropic 6
(GRM6)

Recent update from: 27.02.2006
Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
Sequence




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.




Polymorphism Ala 7 Thr GCC>ACC c.0019 01





(1)
CSNB 57_75dup19bp GGC CTG>GGC GTG GCT GGC GCA GGC GGG CCT G c.0057 01
Heterozygous
Compound
  • G58R
Characteristic ERG at -0.42 and -0.26 log scot td s in 15 Hz-flicker
21974,21973,26162


(2)
Polymorphism Arg 28 His CGC>CAC c.0083 01





(1)
CSNB Pro 46 Leu CCG>CTG c.0137 01
Heterozygous
Compound
  • 720insG
Characteristic ERG at -0.42 and -0.26 log scot td s in 15 Hz-flicker
2445


(2)
CSNB Gly 58 Arg GGG>CGG c.0172 01
Heterozygous
Compound
  • 57dup19bp
Characteristic ERG at -0.42 and -0.26 log scot td s in 15 Hz-flicker
21974,21973,26162


(2)
Polymorphism Pro 59 Gln CCG>CAG c.0176 01





(1)
(2)
Polymorphism Pro 87 Pro CCC>CCT c.0261 01





(1)
Polymorphism Phe 112 Phe TTC>TTT c.0336 01





(1)
Polymorphism Arg 118 Ser CGC>AGC c.0352 01





(1)
CSNB Gly 150 Ser GGC>AGC c.0448 01
Heterozygous
Compound
  • Q708X

063-007


(1)
Polymorphism IVS1+66a>c ccaag>cccag c.0504 IVS 1





(1)
Polymorphism Glu 222 Lys GAG>AAG c.0664 02





(1)
Polymorphism Gly 229 Glu GGG>GAG c.0686 02





(1)
Polymorphism IVS2+83g>t ggggg>ggtgg c.0721 IVS 2





(1)
Polymorphism Val 243 Phe GTC>TTC c.0727 03





(1)
CSNB 728insG ccag GG GGG GTC>ccag GG GGG GGT C c.0728 03
Heterozygous
Compound
  • P46L
Characteristic ERG at -0.42 and -0.26 log scot td s in 15 Hz-flicker
Reported as 729insG
2445


(2)
Polymorphism Ile 245 Val ATT>GTT c.0733 03





(1)
Polymorphism Asp 377 Asp GAT>GAC c.1131 05





(1)
Polymorphism IVS5+53ins9bp agggtg>aggtggggaggggtg c.1153 IVS 5





(1)
Polymorphism Tyr 409 Tyr TAT>TAC c.1227 06





(1)
Polymorphism Asn 451 Asn AAC>AAT c.1353 06





(1)
Polymorphism Gly 464 Gly GGG>GGA c.1392 07





(1)
Polymorphism IVS7+23g>a ccagg>ccggg c.1500 IVS 7





(1)
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


(2)
Polymorphism Cys 522 Cys TGC>TGT c.1566 08





(1)
Polymorphism Arg 578 Cys CGC>TGC c.1732 08





(1)
Polymorphism Ser 583 Phe TCC>TTC c.1748 08





(1)
Polymorphism Pro 589 Leu CCG>CTG c.1766 08





(1)
Polymorphism Val 616 Val GTC>GTT c.1848 08





(1)
CSNB Arg 621 ter CGA>TGA c.1861 08
Homozygous
274-011


(1)
Polymorphism Tyr 625 Tyr TAC>TAT c.1875 08





(1)
Polymorphism Thr 629 Thr ACC>ACT c.1887 08





(1)
Polymorphism Ala 648 Ala GCG>GCT c.1944 08





(1)
Polymorphism Ala 651 Ala GCC>GCT c.1953 08





(1)
Polymorphism Ala 652 Ala GCC>GCT c.1956 08





(1)
Polymorphism Arg 653 His CGC>CAC c.1958 08





(1)
Polymorphism Leu 698 Val CTG>GTG c.2092 08





(1)
CSNB Gln 708 ter CAG>TAG c.2122 08
Heterozygous
Compound
  • G150S

063-007


(1)
Polymorphism IVS8-12t>c cctgc>cccgc c.2125 IVS 8





(1)
Polymorphism Met 712 Val ATG>GTG c.2134 09





(1)
Polymorphism Thr 732 Thr ACG>ACA c.2196 09





(1)
CSNB Glu 781 Lys GAG>AAG c.2341 09
Homozygous
274-021


(1)
Polymorphism Phe 799 Phe TTC>TTT c.2397 09





(1)
Polymorphism Ala 807 Val GCC>GTC c.2420 09





(1)
Polymorphism IVS9+46a>c tcagg>tccgg c.2436 IVS 9





(1)
Polymorphism IVS9+55g>a tcgat>tcaat c.2436 IVS 9





(1)
Polymorphism IVS9-6g>a tggcc>tgacc c.2436 IVS 9





(1)
Polymorphism 2690A>C cgagg>cgcgg c.2690 10
Reported as *59A>C



(1)

References

  1. Dryja,T.P., McGee,T.L., Berson,E.L., Fishman,G.A., Sandberg,M.A., Alexander,K.R., Derlacki,D.J., and Rajagopalan,A.S. Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. 2005; Proc.Natl.Acad.Sci.U.S.A. 102: 4884-4889. Link Goto Top
  2. Zeitz,C., van Genderen,M., Neidhardt,J., Luhmann,U.F., Hoeben,F., Forster,U., Wycisk,K., Matyas,G., Hoyng,C.B., Riemslag,F., Meire,F., Cremers,F.P., and Berger,W. Mutations in GRM6 Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram. 2005; Invest Ophthalmol.Vis.Sci. 46: 4328-4335. Link Goto Top

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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