UNSW Embryology
DNA- Gene Mutational Databases
Page 1 | 2 | 3 | 4 | 5 | WWW
Page LinksAbout Notes See also : List M to Z 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 B C D E F G H I J K L M to Z	See original List
GENE DESIGNATION/ OMIM No. DATABASE NAME INTERNET ADDRESS CURATOR/S ABCR *601691 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 ADL 600119 alpha-Sarcoglycan http://www.dmd.nl/asg_home.html Johan T. den Dunnen Bert E. Bakker Leiden Univ. Med. Centre Leiden ALDOB 229600 Hereditary Fructose Intolerance/Aldolase http://bio.bu.edu/~vfunari/ Dean R. Tolan Boston Univ. APC 175100 No. 1 Adenomatous polyposis coli http://www.mayo.edu/papers/ P53%20Mutations/ Mayo Clinic APC 175100 No. 2 Adenomatous polyposis coli http://perso.curie.fr/Thierry.Soussi/APC.html Thierry Soussi INSERM, Hopital Necker Enfants Malades, Paris AQP2 222000 125800 107777 Nephrogenic diabetes Insipidus http://www.medcor.mcgill.ca/~nephros/ Mary Fujiwara Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada AR 313700 Androgen Receptor http://www.mcgill.ca/androgendb/ Bruce Gottlieb L. Pinsky Lady Davis Inst. Med. Res., Montreal ARSB 253200 Mucopolysaccharidosis http://www.peds.umn.edu/gene Chester B.Whitley Univ. of Minnesota AT3 107300 Antithrombin II mutation database http://www.med.ic.ac.uk/dd/ddhc/ David A. Lane Imperial college Sch. of Med. London, U.K. ATM 208900 No. 1 Ataxia-Telangiectasia http://www.vmmc.org/vmrc/atm.htm Patrick Concannon Virginia Mason Res. Cent., Seattle, Washington Richard A. Gatti, Dept. of Pathology UCLA ATM 208900 No. 2 ATM Mutation Database (under construction) http://www.med.jhu.edu/ataxia/mutate.htm Ataxia-Telangiectasia Children's Project, Boca Raton Florida AVP 125700 192340 AVPR2 304800 Nephrogenic diabetes Insipidus http://www.medcon.mcgill.ca/nephros/ Mary Fujiwara Daniel G. Bichet McGill Uni.& Univ. de Montreal Montreal, Canada BCHE 177400 ESTHER wwwserver: ESTerases and alpha/beta Hydrolase Enzymes and Relatives http://meleze.ensam.inra.fr/cholinesterase/ Xavier Cousin Institut National de la Recherche Agronomique Montpellier, France BRCA1 113705 BRCA2 600185 Breast Cancer http://www.nhgri.nih.gov/ Intramural_research /Lab_transfer/Bic/Member/index.html Laurence Brody & Breast Cancer Information Core NCHGR/NIH Bethesda BTK 300300 Bruton Agammaglobulinemia -BTK base http://helsinki.fi/science/signal/btkbase.html Mauno Vihinen University of Helsinki CANP3 114240 Limb-Girdle Muscular Dystrophy, type 2A IN PREPARATION Johan T. den Dunnen Leiden Univ. Med Centre, Leiden CAV3 601253 Limb-Girdle Muscular dystrophy type 1C http://www.dmd.nl/cav3_home.html Johan T. den Dunnen Leiden Univ. Med Centre, Leiden CBS 236200 Cystathione beta-synthase database http://www.uchsc.edu/sm/cbs Jan P. Kraus Univ. of Colorado Denver, U.S.A. CD40LG 308230 Immunodeficiency with Increased IgM-The European CD40 Defect Database http://www.expasy.ch/www/cd40lbase.htm European Society for Immunodeficiencies CDKN2A 600160 Cyclin-dependent kinase inhibitor A http://pcdnr83.uio.no/ Eivind Hovig The Norwegian Radium Hospital, Oslo CFTR 219700 Cystic Fibrosis http://www.genet.sickkids.on.ca/cftr/ Lap Chee Tsui The Hospital for Sick Children, Toronto, Canada CHM 303100 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 CHS1 *214500 Albinism Database http://www.cbc.umn.edu/tad William S. Oetting Int. Albinism Centre Univ. of Minnesota CLN1 CLN2 CLN3 CLN5 256731 Neuronal Ceroid Lipofuscinoses NCL Mutations http://www.ucl.ac.uk/ncl Sara E. Mole Dept. Paediatrics Univ College London Medical School The Rayne Institute London CNCG1 *123825 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 COCH 601369 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 COL1A1 120150 COL1A2 120160 COL3A1 120180 Collagen Type I & III http://www.le.ac.uk/genetics/collagen/ Raymond Dalgleish & Collaborative Group, Leicester COLQ *603033 ESTHER wwwserver: ESTerases and alpha/beta Hydrolase Enzymes and Relatives http://meleze.ensam.inra.fr/cholinesterase/ Xavier Cousin Institut National de la Recherche Agronomique Montpellier, France CYBB 306400 X-linked granulomatous disease http://www.helsinki.fi/science/ signal/databases/x-cgdbase.html Uni. Of Helsinki Helsinki CYP1B1 *601771 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 DIAPH1 602121 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 DMD 310200 Duchenne & Becker Muscular Dystrophy, DBMD-Dystrophin Mutations http://www.dmd.nl/database.html Johan T. den Dunnen Bert E. Bakker Leiden Univ. Med Centre, Leiden DYSF 603009 Limb-Girdle Muscular Dystrophy, type 2B http://www.dmd.nl/dysf_home.html Johan T. den Dunnen Leiden Univ. Med Centre, Leiden EMD 310300 Emery-Dreifuss Muscular Dystrophy, EMD http://www.path.cam.ac.uk/emd Manfred Wehnert John Yates Cambridge ENG 131195 Endoglin Hereditary Haemorrhagic Telangiectasia, HHT http://genetics.mc.duke.edu/hht/ Douglas Marchuk Dept of Genetics Duke Univ Medical Centre Durham, NC, USA F7 227500 Factor VII Mutation Database http://europium.mrc.rpms.ac.uk/ Haemostasis Res. Group MRC Clinical Sci. Centre, London F8 306700 The Haemophilia A Mutation, Structure, Test and Resource Site (HAMSTeRS) http://europium.mrc.rpms.ac.uk Haemostasis Res. Group MRC Clinical Sci. Centre, London F9 306900 Haemophilia B Mutation Database http://www.umds.ac.uk/molgen/ haemBdatabase.html P.M Green F. Giannelli + consortium FANCA 227650 FANCC 227645 Fanconi Anaemia http://www.rockefeller.edu/ fanconi/mutate/ Arleen Auerbach Christopher G. Mathew + consortium FBN1 134797 Marfan Database- Fibrillin-1 gene mutations http://www.umd.necker.fr/ Site%20Marfan/ Marfan_Home_Page.html G. Collod-Beroud C. Boileau C. Beroud INSERM, Hopital Necker Enfants Malades, Paris G6PD 305900 Glucose-6-Phosphate -dehydrogenase http://rialto.com/favism/mutat.htm E. Beutler -Scripps California T. Vulliamy -RPMS, London L. Luzzato -Dep Hum, Gen. NY,NY GAA 232300 Glycogen Storage Disease Type II,GSDII, Pompe Disease Lysosomal a-glucosidase Deficiency http://www.eur.nl/FGG/CH1/pompe/ A.J. J. Reuser Erasmus University Rotterdam GALB 104170 Mutations in the a-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 School of Medicine New York, U.S.A GALNS 253000 Mucopolysaccharidosis http://www.peds.umn.edu/gene Chester B.Whitley Univ. of Minnesota GALT 230400 Galactosaemia http://www.ich.bris.ac.uk/galtdb/ Linda Tyfield David Carmichael Inst. Child Health, Univ. Bristol, Bristol GCH1 600225 GTP Cyclohydrolase I deficiency -BIOMED/BIODEF 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 GJB1 304040 Charcot-Marie-Tooth disease homepage http://cmt-www.uia.ac.be/cmt/ Christine Van Broekhoven Univ. of Antwerp Antwerp, Belgium GJB2 121011 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 GPA *111300 GPB *111740 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 GRL 138040 Glucocorticoid Receptor Resource database http://nrr.georgetown.edu/ GRR/mutation/mutation.html S.Stoney Simons Mark Danielsen Georgetown Univ. Georgetown GSN *137350 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 GUSB 253220 Mucopolysaccharidosis http://www.peds.umn.edu/gene Chester B.Whitley Univ. of Minnesota HBA1 141800 HBA2 141850 HBB 141900 HBD 142000 HBG1 142200 HBG2 142250 Haemoglobins http://globin.cse.psu.edu/ Ross Hardison Pennsylvania State Univ. Pennsylvania HBS A Syllabus of Human Hemoglobin Variants http://globin.cse.psu.edu/globin/ html/huisman/contents.html Titus H. J. Huisman Marianne F. H. Carver Georgi D. Efremov HEXA 272800 Hexosaminidase A, Tay-Sachs Disease http://data.mch.mcgill.ca/hexadb/ F. Kaplan P. Nowacki K. Hechtman McGill Univ., Montreal HPRT1 308000 Hypoxanthine Guanine Phosphoribosyltransferase 1, Lech-Nyhan Syndrome http://sunsite.unc.edu/ dnam/mainpage.html Neil Cariello Univ. Nth Carolina HPS 203300 Albinism Database ENCOURAGED BY HUGO/MDI http://www.cbc.umn.edu/tad William S. Oetting Int. Albinism Centre Univ. of Minnesota HSP60 118190 Mutations in GroEL Residues 1-237 http://bioc09.uthscsa.edu/ ~seale/Chap/mut.html Jeff Seale HSP60 118190 Mutations in GroEL Residues 238-518 http://bioc09.uthscsa.edu/ ~seale/Chap/mut2.html Jeff Seale HSPE1 600141 Mutations in GroES http://bioc09.uthscsa.edu/ ~seale/Chap/esmut.html Jeff Seale IDS 309900 Mucopolysaccharidosis http://www.peds.umn.edu/gene Chester B.Whitley Univ. of Minnesota IDUA 252800 Mucopolysaccharidosis http://www.peds.umn.edu/gene Chester B.Whitley Univ. of Minnesota IGHV *147070 IGHD *147170 IGHJ *147010 IGKV *146980 IGKJ *146970 IGLV *147240 IGLJ *147230 IMGT, the international ImMunoGeneTics database http://imgt.cnusc.fr:8104 Marie-Paule Lefranc, CNRS, UniversitÈ Montpellier II, Montpellier, France IL2RG 308380 X-Linked Severe Combined Immunodeficiency SCID http://www.nhgri.nih.gov/DIR/LGT/SCID/ Jeniffer Puck Joie Davies Roxanne Fisher Amy Pepper NHGRI/NIH, Bethesda JK(SLC14A1) *111000 Blood Group Antigen Mutation Database ENCOURAGED BY HUGO/MDI 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 KCNE1 176261 KCNH2 152427 KCNQ1 192500 Long QT Syndrome Database ENCOURAGED BY HUGO/MDI http://www.ssi.dk/en/forskning/lqtsdb.htm Michael Christiansen Lars A. Larsen Paal Skytt Andersen Molecular Cardiology grp Statens Serum Institut Copenhagen, Denmark L1CAM 308840 L1 Cell Adhesion Molecule, http://dndlab-www.uia.ac.be/dnalab/l1/ P. J. Willems Univ. Antwerp, Antwerp LDLR 143890 No. 1 Hypercholesterolemia, Familial http://www.ucl.ac.uk/fh I. Day, S. Humphries LDLR 143890 No. 2 Low Density Lipoprotein Receptor Mutation Database http://www.umd.necker.fr:2004/ M. Varret C. Boileau C. Beroud INSERM, Hopital Necker Enfants Malades, Paris LQTS 192500 Long QT syndrome database (LQTSdb) http://www.ssi.dk/en/forskning/ lqtsdb/lqtsdb.htm Michael Christiansen Lars A. Larsen Paal Skytt Andersen Molecular Cardiology Group Statens Serum Institut, Copenhagen, Denmark
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