UNSW Embryology
DNA- Gene Mutational Databases
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Page LinksAbout Notes See also : List A to L Central and General Mutation Databases	Intro | Genes and Diseases | Databanks | Genetic Codes | Dev Genes | Genomes
Introduction This list was originally compiled by Rania Horaitis with the assistance of R.G.H. Cotton, Mutation Research Centre, Melbourne. Addresses are correct as of 2nd December 1998. Some sites show names of those responsible. Any errors, changes or additions, including "dead" sites should be reported to R. Horaitis: horaitis@ariel.ucs.unimelb.edu.au.
A to L M N O P Q R S T U V W X Y Z	See original List
GENE DESIGNATION/ OMIM No. DATABASE NAME INTERNET ADDRESS CURATOR/S MLH1 120436 MSH2 120435 Hereditary Non-Polyposis Colorectal Cancer, HNPCC http://www.nfdht.nl Collaborative Group,Netherlands MPZ *159440 Charcot-Marie-Tooth disease homepage http://cmt-www.uia.ac.be/cmt/ Eva Nelis Univ. of Antwerp Antwerp, Belgium MYBPC3 600958 MYH7 160760 MYL2 160781 FHC Mutation Database ENCOURAGED BY HUGO/MDI http://www.angis.org.au/ Databases/Heart/heartbreak.html David C. Fung Bing Yu Ronald J. Trent Dept. Mol & Clin Genet. Royal Prince Alfred Hosp. Sydney, Australia MYO7A 276903 MYO15 #600316 *602266 Hereditary Hearing Loss Homepage http://dnalab-www.uia.ac.be/dnalab/hhh Guy van Camp Univ. of Antwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A MYOC *601652 Keio Mutation db for Eye Disease Genes (KMEYEDB) http://mutview.dmb.med.keio.ac.jp S. Minoshima S. Mitsuyama S. Ohno T.Kawamura N.Shimizu Keio Univ. School of Med. Tokyo NAGA 104170 Mutations in the alpha-N acetylgalactosaminidase gene causing Schindler disease http://www.mssm.edu/crc/mutations/schindler.html Kenneth H. Astrin Robert J. Desnick Dept. of Human Genetics Mt Sinai Sch. of Med. New York, U.S.A. NAGLU 252920 Mucopolysaccharidosis http://www.peds.umn.edu/gene Chester B.Whitley Univ. of Minnesota NF1 162200 Neurofibromatosis Type I http://www.nf.org/nf1gene/ nf1gene.home.html B.R. Korf & NF1 Genetic Analysis Consortium Harvard, Mass. OA1 300500 OCA1 *203100 OCA2 203200 OCA3 203290 Albinism Database http://www.cbc.umn.edu/tad William S. Oetting Int. Albinism Centre Univ. of Minnesota OTC 311250 Ornithine Transcarbamylase http://www.peds.umn.edu/otc/ Mendel Tuchman Univ. of Minnesota, U.S.A PAH 261600 Phenylalanine Hydroxylase Locus Database Home Page http://www.mcgill.ca/pahdb Charles Scriver Piotr Nowacki Susan Byck Lynne Prevost + PAH Mutation Analysis Consortium McGill Univ. Montreal, Canada PAX6 106210 PAX6 Mutation Database -Aniridia Type II http://www.hgu.mrc.ac.uk/ Softdata/PAX6/ Isabel Hanson MRC, HGM Edinburgh PCBD 126090 Pterin-4a-carbionolamine dehydratase deficiency- BIOMED database http://www.unizh.ch/%7eblau/ biomdb1.html N. Blau-Univ. Children's Hospital, Zurich J.L. Dhont- FacultÈ libre de MÈdicine, Lille I.Dianzani-Univ. Torino, Torino PCD 176430 Premature Centromere Division -BIOMED database http://www.unizh.ch/%7eblau/ biomdb1.html N. Blau-Univ. Children's Hospital, Zurich J.L. Dhont- FacultÈ libre de MÈdicine, Lille I.Dianzani-Univ. Torino, Torino PDE6A *180071 Keio Mutation db for Eye Disease Genes (KMEYEDB) http://mutview.dmb.med.keio.ac.jp S. Minoshima S. Mitsuyama S. Ohno T.Kawamura N.Shimizu Keio Univ. School of Med. Tokyo PDE6B *180072 Keio Mutation db for Eye Disease Genes (KMEYEDB) http://mutview.dmb.med.keio.ac.jp S. Minoshima S. Mitsuyama S. Ohno T.Kawamura N.Shimizu Keio Univ. School of Med. Tokyo PDS #600791 *274600 Hereditary Hearing Loss Homepage http://dnalab-www.uia.ac.be/dnalab/hhh Guy van Camp Univ. of Antwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A PKD1 601313 PKD2 173910 Polycystic Kidney Disease, PKD http://medoc.gdb.org/pkd/ -Not accessible 7th May 1998 -Not accessible 1st December 1998 what happened to it, can you help? ? PLP 312080 Proteolipid protein mutation database http://www.med.wayne.edu/Neurology/plp.html James Garbern Dept. Neurology Wayne State Univ. Detroit, U.S.A POU3F4 300039 POU4F3 *602460 #602459 Hereditary Hearing Loss Homepage http://dnalab-www.uia.ac.be/dnalab/hhh Guy van Camp Univ. of Antwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A PMI 154550 PMM2 601785 Carbohydrate Deficient Glycoprotein Syndrome Types Ia and Ib mutation database http://www.med.kuleuven/cme/cdg.htm Gert Matthijs Center for Human Genetics Leuven, Belgium PMP22 *601097 Charcot-Marie-Tooth disease homepage http://cmt-www.uia.ac.be/cmt/ Eva Nelis Univ. of Antwerp Antwerp, Belgium PTS 261640 6-Pyruvoyl-tetrahydropterin synthase deficiency -BIOMED database http://www.unizh.ch/%7eblau/ biomdb1.html N. Blau-Univ. Children's Hospital, Zurich J.L. Dhont- FacultÈ libre de MÈdicine, Lille I.Dianzani-Univ. Torino, Torino QDPR 261630 Quinoid Dihydropteridine reductase deficiency - BIOMED database http://www.unizh.ch/%7eblau/ biomdb1.html N. Blau-Univ. Children's Hospital, Zurich J.L. Dhont- FacultÈ libre de MÈdicine, Lille I.Dianzani-Univ. Torino, Torino RB1 180200 No. 1 Retinoblastoma, RB1 Mutation Database http://home.kamp.net/home/dr.lohmann Dietmar Lohmann Institut fuer humangenetik Essen RB1 180200 No. 2 Keio Mutation db for Eye Disease Genes (KMEYEDB) http://mutview.dmb.med.keio.ac.jp S. Minoshima S. Mitsuyama S. Ohno T.Kawamura N.Shimizu Keio Univ. School of Med. Tokyo RDS 179605 No. 1 Retinal Degeneration Slow http://mol.ophth.uiowa.edu/ MOL_WWW/RDStab.html Univ.of Iowa RDS 179605 No. 2 Keio Mutation db for Eye Disease Genes (KMEYEDB) http://mutview.dmb.med.keio.ac.jp S. Minoshima S. Mitsuyama S. Ohno T.Kawamura N.Shimizu Keio Univ. School of Med. Tokyo RHCE *111700 RHD *111680 Blood Group Antigen Mutation Database http://www.bioc.aecom.yu.edu/bgmut/index.htm Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A RHO 180380 No. 1 Rhodopsin http://mol.ophth.uiowa.edu/ MOL_WWW/Rhotab.html Univ.of Iowa RHO 180380 No. 2 Keio Mutation db for Eye Disease Genes (KMEYEDB) http://mutview.dmb.med.keio.ac.jp S. Minoshima S. Mitsuyama S. Ohno T.Kawamura N.Shimizu Keio Univ. School of Med. Tokyo RHOK *180381 Keio Mutation db for Eye Disease Genes (KMEYEDB) http://mutview.dmb.med.keio.ac.jp S. Minoshima S. Mitsuyama S. Ohno T.Kawamura N.Shimizu Keio Univ. School of Med. Tokyo RS1 312700 No. 1 X-Linked Juvenile Retinoschisis http://www.dmd.nl/rs/rs.html Thirsa Kraayenbrink Johan T. den Dunnen Leiden Univ. Medical Centre Leiden, Netherlands RS1 312700 No. 2 Keio Mutation db for Eye Disease Genes (KMEYEDB) http://mutview.dmb.med.keio.ac.jp S. Minoshima S. Mitsuyama S. Ohno T.Kawamura N.Shimizu Keio Univ. School of Med. Tokyo RP3 *312610 Keio Mutation db for Eye Disease Genes (KMEYEDB) http://mutview.dmb.med.keio.ac.jp S. Minoshima S. Mitsuyama S. Ohno T.Kawamura N.Shimizu Keio Univ. School of Med. Tokyo SCN5A 600163 Long QT Syndrome mutation database (LQTSdb) http://www.ssi.dk/en/forskning/lqtsdb.htm Michael Christiansen Lars A. Larsen Paal Skytt Andersen Molecular Cardiology Grp Statens Serum Institut Copenhagen, Denmark SGCC - SGCA 600119 SGCB 600900 SGCD 601411 Limb-Girdle Muscular Dystrophy, Type 2C Type 2D Type 2E Type 2F http://www.dmd.nl/sgcc_home.html http://www.dmd.nl/sgca_home.html http://www.dmd.nl/sgcb_home.html http://www.dmd.nl/sgcd_home.html Johan T. den Dunnen Leiden Univ. Med Centre, Leiden SLC14A1 111000 Blood Group Antigen Mutation Database http://www.bioc.aecom.yu.edu/bgmut/index.htm Olga O. Blumenfeld Department of Biochemistry, Santosh Patnaik, Department of Cell Biology, Albert Einstein College of Medicine New York, NY. U.S.A TECTA *602574 Hereditary Hearing Loss Homepage http://dnalab-www.uia.ac.be/dnalab/hhh Guy van Camp Univ. of Antwerp Antwerp, Belgium Richard J.H. Smith Univ. of Iowa Hospitals & Clinics Iowa city, U.S.A TNNT2 191045 TNNI3 191044 TPM1 191010TP53 191170 No. 1 FHC Mutation Database p53 Tumor protein http://www.angis.org.au/ Databases/Heart/heartbreak.htmlhttp://www.mayo.edu/ research/papers/P53%20Mutations David C. Fung Bing Yu Ronald J. Trent Dept. Mol & Clin Genet. Royal Prince Alfred Hosp. Sydney, AustraliaMayo Clinic TP53 191170 No. 2 p53 Somatic Mutations in Tumours & Cell Lines http://www.iarc.fr/p53/Homepage.htm T. Hernandez P. Hainaut R. Montesano T. Soussi B. Shomer M. Hollstein M. Greenblatt E. Hovig C.C. Harris IARC, TP53 191170 No. 3 p53 Mutation in Human Cancer http://perso.curie.fr/ Thierry.Soussi/p53_mutation.html T. Soussi C. Beroud INSERM, Hopital Necker Enfants Malades, Paris TP53 191170 No. 4 Human HPRT & p53 Mutations http://sunsite.unc.edu/dnam/mainpage.html Neil Cariello Univ. Nth Carolina TRAV TRBV TRBD TRGV TRGJ TRGC TRDV TRDD TRDJ NO OMIM ENTRY IMGT, the international ImMunoGeneTics database http://imgt.cnusc.fr:8104 Marie-Paule Lefranc, CNRS, UniversitÈ Montpellier II, Montpellier, France TSC1 191100 Tuberous Sclerosis Mutation Listings http://zk.bwh.harvard.edu/ts/ Mary Pat Reeve Melbourne TSC2 191092 The Cardiff-Rotterdam Tuberous Sclerosis Mutation Database http://www.uwcm.ac.uk/uwcm/ mg/tsc_db/ S. Verhoef Inst.of Med. Gen. Cardiff, Edinburgh TSHR *603372 TSH Receptor mutation database http://www.uni-leipzig.de/innere/TSH Ralf Paschke 3rd med. Dept. Univ. of Leipzig, Germany VHL 193300 Von Hippel Lindau disease gene http://www.umd.necker.fr:20051 C. Beroud INSERM, Hopital Necker Enfants Malades, Paris VMD2 155370 Vitelliform macular dystrophy mutation database http://www.uni-wuerzburg.de/humangenetics/vmd2.html Bernhard H. F. Weber Inst. of Human Genetics Wuerzburg, Germany VWF 193400 Von Willebrand Factor Database http://mmg2.im.med.umich.edu/vWF/ D. Ginsburg J. E. Sadler Univ. of Michigan WRN 277700 Database of WS -associated WRN mutations http://www.pathology.washington.edu/ werner/ws_wrn.html Mike Moser University of Washington Seattle WT1 194070 Wilm's Tumour database http://www.umd.necker.fr:2003/ C. Jeanpierre C. Beroud INSERM, Hopital Necker Enfants Malades, Paris X-CGD *306400 X-CGDbase http://www.helsinki.fi/ science/signal/databases/x-cgdbase.html ? XLRS 312700 X-linked juvenile Retinoschisis http://www.dmd.nl/rs.html Johan T. den Dunnen T. Kraayenbrink Leiden Univ. Med Centre, Leiden
About Notes These notes from the Embryology Program compiled and written by Dr Mark Hill. This list was originally compiled by Rania Horaitis with the assistance of R.G.H. Cotton, Mutation Research Centre, Melbourne. Addresses are correct as of 2nd December 1998. Some sites show names of those responsible. Any errors, changes or additions, including "dead" sites should be reported to R. Horaitis: horaitis@ariel.ucs.unimelb.edu.au. This Material for Educational Purposes only
m.hill@unsw.edu.au Date Last Modified: 11/3/99 This site maintained by Dr M. Hill