HGMD

Locus-Specific Mutation Databases

Biobase

A considerable number of locus-specific mutation databases have been constructed and made publically available via the internet. Many of the lesions present in these databases are included in the Human Gene Mutation Database. However, the locus-specific databases may contain additional unpublished material. An article reviewing current locus-specific databases recently appeared in Genome Res (2002) 12: 680-688.

Please note that these sites listed below are not maintained in Cardiff, and that all queries regarding them should be addressed to the curators of the site in question. It should also be noted that inclusion of a site here does not automatically imply that the curators of HGMD have approved either the quality of the site or its contents.


Gene(s)

Database

Host Institution

ABCA4 ATP-binding cassette transporter retina Retina International
ABCC6 Multidrug resistance-associated protein 6 Retina International
ABCC8 Sulphonylurea receptor Hôpital Necker-Enfants Malades (Paris), France
ABCD1 X-linked adrenoleukodystrophy Academic Medical Center, Amsterdam, Holland and Kennedy Krieger Institute, Baltimore MD, USA
ABO Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
ACHE Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
ACTC FHC mutation database Australian National Genomic Information Service
ACTC Sarcomere gene mutations Harvard University, USA
ACVRL1 Hereditary hemorrhagic telangiectasia
mutation database
Heriot-Watt University, Edinburgh, UK
ADA Adenosine deaminase deficiency University of Tampere, Finland
ADRB3 Beta-3 adrenergic receptor Tel-Aviv University, Israel
ADSL ADSL mutation database University of Louvain Medical School, Belgium
AIPL1 Aryl hydrocarbon receptor-interacting protein-like 1 Retina International
ALB Albumin database Mary Imogene Bassett Hospital Research Institute, New York, USA
ALDH1B1 Aldehyde dehydrogenase University of Colorado Health Sciences Centre, USA
ALDH2 Aldehyde dehydrogenase University of Colorado Health Sciences Centre, USA
ALDH3A1, ALDH3A2 Aldehyde dehydrogenase University of Colorado Health Sciences Centre, USA
ALDH4 Aldehyde dehydrogenase University of Colorado Health Sciences Centre, USA
ALDH9 Aldehyde dehydrogenase University of Colorado Health Sciences Centre, USA
ALDOB Hereditary fructose intolerance Boston University, USA
ALG6 Congenital disorders of glycosylation Leuven University, Belgium
ALPL ALPL mutation database University of Versailles-Saint Quentin en Yvelines, France
AMELX Amelogenesis imperfecta University of North Carolina, USA
AP3B1 Albinism database University of Minnesota, USA
APC Adenomatous polyposis coli
note - currently unavailable
Mayo Clinic, USA
APC Adenomatous polyposis coli
Institut Curie (Paris), France
APC Adenomatous polyposis coli Tel-Aviv University, Israel
APP Alzheimer disease Antwerp University, Belgium
AQP1 Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
AQP2 Diabetes insipidus
McGill University (Quebec), Canada
AR Androgen receptor McGill University (Quebec), Canada
AT3 Antithrombin mutation database Imperial College School of Medicine, London, UK
ATM Ataxia-telangiectasia Virginia Mason Research Center (Seattle), USA
ATP7B Wilson disease University of Alberta, Canada
ATP7B Wilson disease Tel-Aviv University, Israel
AVP Diabetes insipidus
McGill University (Quebec), Canada
AVPR2 Diabetes insipidus
McGill University (Quebec), Canada
BFSP2 Intermediate Filament Database Dundee University, UK
BLM Bloom syndrome University of Tampere, Finland
BRCA1 Breast cancer
note - password required
National Human Genome Research Institute., USA
BTK X-linked agammaglobulinaemia University of Tampere, Finland
CACNA1F L-type calcium-channel gene Retina International
CAPN3 Leiden muscular dystrophy pages Leiden University, Holland
CARD15 Infevers National Centre for Scientific Research, France
CASR Calcium sensing receptor mutation database McGill University (Quebec), Canada
CAV3 Leiden muscular dystrophy pages Leiden University, Holland
CBS Cystathionine beta-synthase page University of Colorado Health Sciences Centre, USA
CD3E CD3epsilon deficiency University of Tampere, Finland
CD3G CD3gamma deficiency University of Tampere, Finland
CDK4 eMelanoBase Westmead Millennium Institute, Australia
CDKN2A Cyclin-dependent kinase inhibitor 2A University of Oslo, Norway
CDKN2A eMelanoBase Westmead Millennium Institute, Australia
CDKN2A CDKN2a Database Project University of Vermont, USA
CFTR Cystic fibrosis Toronto Hospital for Sick Children, Canada
CHM Rab escort protein 1 Retina International
CHS1 Albinism database University of Minnesota, USA
CHS1 Chediak-Higashi syndrome Retina International
CIAS1 Infevers National Centre for Scientific Research, France
CLN2, CLN3, CLN5, CLN8, PPT1 (CLN1) Neuronal ceroid lipofuscinoses University College London, UK
CLN3 Ceroid lipofuscinosis Retina International
CNGA1 Cyclic nucleotide-gated cation channel Retina International
CNGA3 Cyclic nucleotide-gated cation channel Retina International
COL1A1, COL1A2, COL3A1 Collagen (types I and III) Leicester University, UK
CRB1 Crumbs homologue 1 Retina International
CRX Cone rod homeobox Retina International
CSX Heart disease Tel-Aviv University, Israel
CYBA Chronic granulomatous disease University of Tampere, Finland
CYBB X-linked chronic granulomatous disease University of Tampere, Finland
CYP1A1, CYP1A2, CYP1B1 Cytochrome P450 allele nomenclature committee Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
CYP2A6, CYP2B6, CYP2C9, CYP2D6, CYP2E1 Cytochrome P450 allele nomenclature committee Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
CYP21A2 Cytochrome P450 allele nomenclature committee Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
CYP3A4, CYP3A5 Cytochrome P450 allele nomenclature committee Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
CYP5A1 Cytochrome P450 allele nomenclature committee Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
CYP8A1 Cytochrome P450 allele nomenclature committee Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
DES Intermediate Filament Database Dundee University, UK
DMD Leiden muscular dystrophy pages Leiden University, Holland
DO Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
DPM1 Congenital disorders of glycosylation Leuven University, Belgium
DYSF Leiden muscular dystrophy pages Leiden University, Holland
EFEMP1 EGF-containing fibulin-like extracellular matrix protein 1 Retina International
EGR2 Inherited peripheral neuropathies University of Antwerp, Belgium
EMD Emery-Dreifuss muscular dystrophy Cambridge University, UK
ENAM Amelogenesis imperfecta University of North Carolina, USA
ENG Hereditary hemorrhagic telangiectasia
mutation database
Heriot-Watt University, Edinburgh, UK
FANCA, FANCC Fanconi anaemia Rockefeller University (New York), USA
FBN1 Marfan database Hôpital Necker-Enfants Malades (Paris), France
FGA, FGB, FGG Fibrinogen variants Study Group on Haemostasis and Thrombosis, France
FOXL2 FOXL2 allelic variants Centre for Medical Genetics, Belgium
FUT1, FUT2, FUT3 Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
FY Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
F7 Factor VII Hammersmith Hospital (London), UK
F8 Haemophilia A Hammersmith Hospital (London), UK
F9 Haemophilia B Guy's Hospital (London), UK
G6PD G6PD mutations Reading University BioInformatics Consortium
G6PD Favism research papers
Scripps Research Institute (California), USA
GAA Acid alpha-glucosidase Erasmus University (Rotterdam), Holland
GALC Krabbe disease Tel-Aviv University, Israel
GALT GALT database Institute of Child Health (Bristol), UK
GALT GALT analysis database University of Utah, Department of Pathology and ARUP Institute for Experimental Pathology
GAN Inherited peripheral neuropathies University of Antwerp, Belgium
GBA Gaucher disease Tel-Aviv University, Israel
GCH1 GTP cyclohydrolase I deficiency University Children's Hospital, Zurich, Switzerland
GCS1 Congenital disorders of glycosylation Leuven University, Belgium
GJB1 Inherited peripheral neuropathies University of Antwerp, Belgium
GJB2 Connexin 26 homepage Cancer Research Institute, Spain
GJB2 Hearing loss Tel-Aviv University, Israel
GM2A GM2 gangliosidosis McGill University (Quebec), Canada
GNAS1 Albright hereditary osteodystrophy National Institutes of Health, Bethesda, Maryland, USA
GNAS1 GNAS1 mutation database Leicester University, UK
GNAT1 Transducin subunit Retina International
GP1BB Bernard-Soulier syndrome Royal College of Surgeons, Ireland
GP9 Bernard-Soulier syndrome Royal College of Surgeons, Ireland
GUCA1A, GUCY2D Retinal guanylate cyclases Retina International
GYPA Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
HBB DENiZ Fatih University, Istanbul, Turkey
HEXA Hexosaminidase A McGill University (Quebec), Canada
HEXA Tay-Sachs disease Tel-Aviv University, Israel
HEXB Hexosaminidase B McGill University (Quebec), Canada
HGD AKU database
Centro de Investigaciones Biológicas, Madrid, Spain
HPRT1 Lesch-Nyhan syndrome University of North Carolina, USA
HPS Albinism database University of Minnesota, USA
HPS Hermansky-Pudlak syndrome Retina International
HSD3B2 Adrenal hyperplasia Tel-Aviv University, Israel
IGH, IGK, IGL Immunoglobulins IMGT, Montpellier II University, France
IL2RG IL2RGbase National Human Genome Research Inst., USA
ITGA2B, ITGB3 Glanzmann thrombasthenia database Mount Sinai School of Medicine, New York, USA
JAK3 Severe combined JAK3 deficiency University of Tampere, Finland
JUP Gene connection for the heart
Fondazione Salvatore Maugeri, Pavia, Italy
KEL Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
KCNE1, KCNE2, KCNH2, KCNQ1 Long QT syndrome Statens Serum Institut, Denmark
KCNE1, KCNE2, KCNH2, KCNQ1 Gene connection for the heart
Fondazione Salvatore Maugeri, Pavia, Italy
KCNE1, KCNH2, KCNQ1 Long QT syndrome Tel-Aviv University, Israel
KCNQ4 Hearing loss Tel-Aviv University, Israel
KRT1, KRT2E, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT7, KRT8, Intermediate Filament Database Dundee University, UK
KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT18 Intermediate Filament Database Dundee University, UK
KRTHB1, KRTHB6 Intermediate Filament Database Dundee University, UK
L1CAM L1 cell adhesion molecule University of Groningen, Netherlands
LDLR Familial hypercholesterolaemia University College London, UK
LDLR Familial hypercholesterolaemia Hôpital Necker-Enfants Malades (Paris), France
LMNA Intermediate Filament Database Dundee University, UK
LMNA Leiden muscular dystrophy pages Leiden University, Holland
LTA Cytokine gene polymorphism in human disease University of Bristol, UK
MECP2 Rett syndrome Edinburgh University, UK
MECP2 RettBASE Children's Hospital, Westmead, Australia
MECP2 Rett syndrome Tel-Aviv University, Israel
MEFV Infevers National Centre for Scientific Research, France
MEFV Mediterranean fever Tel-Aviv University, Israel
MEN1 Multiple endocrine neoplasia 1 Hôpital Necker-Enfants Malades (Paris), France
MGAT2 Congenital disorders of glycosylation Leuven University, Belgium
MLH1 International Group on Hereditary Non-Polyposis Colorectal Cancer Amsterdam, Holland
MLYCD MLYCD database MRC Unit (Edinburgh), UK
MPI Congenital disorders of glycosylation Leuven University, Belgium
MPZ Inherited peripheral neuropathies University of Antwerp, Belgium
MSH2, MSH6 International Group on Hereditary Non-Polyposis Colorectal Cancer Amsterdam, Holland
MTMR2 Inherited peripheral neuropathies University of Antwerp, Belgium
MVK Infevers National Centre for Scientific Research, France
MYBPC3 FHC mutation database Australian National Genomic Information Service
MYBPC3 Sarcomere gene mutations Harvard University, USA
MYH7 FHC mutation database Australian National Genomic Information Service
MYH7 Sarcomere gene mutations Harvard University, USA
MYL2, MYL3 FHC mutation database Australian National Genomic Information Service
MYL2, MYL3 Sarcomere gene mutations Harvard University, USA
MYO7A Myosin VIIa Retina International
NAGLU Sanfilippo syndrome type B University of Minnesota, USA
NAT1, NAT2 Arylamine N-acetyltransferases University of Louisville, Kentucky, USA
NBS1 Nijmegen breakage syndrome Virginia Mason Research Center (Seattle), USA
NCF1 Chronic granulomatous disease University of Tampere, Finland
NCF2 Chronic granulomatous disease University of Tampere, Finland
NDP Norrin Retina International
NDRG1 Inherited peripheral neuropathies University of Antwerp, Belgium
NEF3 Intermediate Filament Database Dundee University, UK
NEFH Intermediate Filament Database Dundee University, UK
NEFL Intermediate Filament Database Dundee University, UK
NEFL Inherited peripheral neuropathies University of Antwerp, Belgium
NF1 NF1 International Mutation Database NF1 Consortium, USA
NF2 Neurofibromatosis type 2 mutations
non-functional
Massachusetts General Hospital, Boston, USA
NF2 International NF2 mutation database
Los Angeles, USA
NF2 United Kingdom NF2 registry
Manchester, UK
not56l Congenital disorders of glycosylation Leuven University, Belgium
NR2E3 Photoreceptor cell-specific nuclear receptor Retina International
NRL Neuroretina-linked leucine zipper Retina International
NTRK1 Inherited peripheral neuropathies University of Antwerp, Belgium
NYX Nyctalopin Retina International
OA1 Albinism database University of Minnesota, USA
OA1 Ocular albinism Retina International
OCA2 Albinism database University of Minnesota, USA
OCA2 P gene Retina International
OCRL Lowe syndrome mutation database The National Human Genome Research Institute, Bethesda, USA
OPA1 eOPA1 Angers University, France
OPN1LW Red cone pigment Retina International
OPN1MW Green cone pigment Retina International
OPN1SW Blue cone pigment Retina International
OTC Ornithine transcarbamylase deficiency University of Minnesota, USA
PAH Phenylketonuria McGill University (Quebec), Canada
PAX2 PAX2 database MRC Unit (Edinburgh), UK
PAX6 PAX6 database MRC Unit (Edinburgh), UK
PCBD Pterin-4a-carbinolamine dehydratase deficiency University Children's Hospital (Zurich), Switzerland
PCCA PCC Pages University of Colorado Health Sciences Centre, USA
PCCB PCC Pages University of Colorado Health Sciences Centre, USA
PDC Phosducin Retina International
PDE6A, PDE6B Phosphodiesterase type 6 Retina International
PHEX PHEX locus database McGill University (Quebec), Canada
PDK1, PKD2 ADPKD Mutation Database Mayo Clinic, USA
PKHD1 Autosomal Recessive Polycystic Kidney Disease Aachen University, Germany
PLP

Proteolipid protein mutations
note - now hosted by GeneClinics

Wayne State University, Detroit, Michigan, USA
PMM2 Congenital Disorders of Glycosylation Leuven University, Belgium
PMP22 Inherited peripheral neuropathies University of Antwerp, Belgium
PMS1, PMS2 International Group on Hereditary Non-Polyposis Colorectal Cancer Amsterdam, Holland
POU4F3 Hearing loss Tel-Aviv University, Israel
PPT1 Palmitoyl-protein thioesterase Retina International
PPT1 Neuronal ceroid lipofuscinoses University College London, UK
PRKCG Protein kinase C gamma Retina International
PRNP Prion Protein/CJD database Sperling Biomedical Foundation (Oregon), USA
PROC Protein C database Academic Medical Centre, University of Amsterdam, Holland
PROS1 Protein S database University of North Carolina, USA
PROML1 Prominin (mouse)-like 1 Retina International
PRSS1 Chronic pancreatitis University of Leipzig, Germany
PSAP Gaucher disease Tel-Aviv University, Israel
PSEN1, PSEN2 Alzheimer disease Antwerp University, Belgium
PSTPIP1 Infevers National Centre for Scientific Research, France

PTCH

PTCH mutation database Karolinska Institutet, Sweden
PTS 6-Pyruvoyl-tetrahydropterin synthase deficiency University Children's Hospital (Zurich), Switzerland
QDPR Dihydropteridine reductase deficiency University Children's Hospital (Zurich), Switzerland
RAG1 RAG1 deficiency University of Tampere, Finland
RAG2 RAG2 deficiency University of Tampere, Finland
RB1 RB1 database Universitaetsklinikum Essen, Germany
RBP4 Retinol-binding protein 4 Retina International
RDH5 11-cis retinol dehydrogenase Retina International
RDS Retinal degeneration, slow database University of Iowa, USA
RDS RDS/Peripherin Retina International
RGR RPE-retinal G-protein-coupled receptor Retina International
RHAG, RHCE, RHD Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
RHO Rhodopsin University of Iowa, USA
RHO Rhodopsin Retina International
RHOK Rhodopsin kinase Retina International
RLBP1 Cellular retinaldehyde-binding protein
note - URL not functional
Retina International
ROM1 Rod outer membrane protein 1 Retina International
RP1 Retinitis pigmentosa 1 Retina International
RP2 Retinits pigmentosa 2 Retina International
RPE65 Retinal pigment epithelium specific protein Retina International
RPGR Retinitis pigmentosa GTPase regulator Retina International
RPS6KA3 Coffin-Lowry syndrome University of Strasbourg, France
RS1 Retinoschisis database Leiden University, Holland
RS1 X-linked retinoschisis Retina International
RYR2 Gene connection for the heart
Fondazione Salvatore Maugeri, Pavia, Italy
SAG Arrestin Retina International
SCN5A Long QT syndrome Statens Serum Institut, Denmark
SCN5A Long QT syndrome Tel-Aviv University, Israel
SCN5A Gene connection for the heart
Fondazione Salvatore Maugeri, Pavia, Italy
SDHA Leiden Open Variation Database Leiden University, Holland
SDHB Leiden Open Variation Database Leiden University, Holland
SDHC Leiden Open Variation Database Leiden University, Holland
SDHD Leiden Open Variation Database Leiden University, Holland
SERPING1 HAEdb Institute of Haematology and Immunology, Budapest, Hungary
SGCA Sarcoglycan-alpha database Leiden University, Holland
SGCB Sarcoglycan-beta database Leiden University, Holland
SGCD Sarcoglycan-delta database Leiden University, Holland
SGCG Sarcoglycan-gamma database Leiden University, Holland
SH2D1A Lymphoproliferative syndrome University of Tampere, Finland
SHOX Short stature gene variant database University of Heidelberg, Germany
SLC3A1 Cystinuria mutation database McGill University (Quebec), Canada
SLC4A1 Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
SLC14A1 Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
SOD1 SOD1 mutations ALS consortium
SPINK1 Chronic pancreatitis University of Leipzig, Germany
TCAP Leiden muscular dystrophy pages Leiden University, Holland
TCOF1 TCOF1 mutation database Human Genome Research Centre, São Paulo, Brazil
TIMP3 Tissue inhibitor of metalloproteinase 3 Retina International
TNF Cytokine gene polymorphism in human disease University of Bristol, UK
TNFRSF1A Infevers National Centre for Scientific Research, France
TNFSF5 CD40L defect database University of Geneva, Switzerland
TNFSF5 CD40L database University of Tampere, Finland
TNNI3 FHC mutation database Australian National Genomic Information Service
TNNI3 Sarcomere gene mutations Harvard University, USA
TNNT2 FHC mutation database Australian National Genomic Information Service
TNNT2 Sarcomere gene mutations Harvard University, USA
TP53 p53 University of North Carolina, USA
TP53 p53
note - permission required
Mayo Clinic, USA
TP53 p53 Human Genome Center (Tokyo), Japan
TP53 p53 Institut Curie (Paris), France
TP53 p53 International Agency for Research on Cancer (Lyon), France
TP53 p53 Charles University, Prague, Czech Republic
TPM1 FHC mutation database Australian National Genomic Information Service
TPM1 Sarcomere gene mutations Harvard University, USA
TRA, TRB, TRG, TRD T cell receptors IMGT, Montpellier II University, France
TSC1, TSC2 Tuberous sclerosis variation database Brigham and Women's Hospital and Harvard Medical School, USA
TSC2 Tuberous sclerosis mutation database University of Wales College of Medicine (Cardiff), UK
TSHR TSH-receptor mutation database University of Leipzig, Germany
TTID Leiden muscular dystrophy pages Leiden University, Holland
TTN FHC mutation database Australian National Genomic Information Service
TTR Transthyretin
note - URL not functional
Institute for Molecular and Cell Biology, Universidade do Porto, Portugal
TULP1 Tubby-like protein 1 Retina International
TYR Albinism database University of Minnesota, USA
TYR Tyrosinase Retina International
TYRP1 Albinism database University of Minnesota, USA
TYRP1 Tyrosinase-related protein 1 Retina International
USH2A Usher syndrome 2A Retina International
VHL Von Hippel-Lindau disease University of Birmingham, UK
VHL Von Hippel-Lindau disease Hôpital Necker-Enfants Malades (Paris), France
VMD2 Vitelliform macular dystropy University of Wuerzburg, Germany
VMD2 Bestrophin Retina International
VWF Von Willebrand disease University of Sheffield, UK
WFS1 WFS1 gene mutation and polymorphism database Kresge Hearing Research Institute, University of Michigan, USA
WRN Werner syndrome mutation database University of Washington-Seattle, USA
WT1 Wilm's tumour database Hôpital Necker-Enfants Malades (Paris), France
XK Blood group antigen mutation database Albert Einstein College of Medicine, New York, USA
ZAP70 ZAP70 deficiency University of Tampere, Finland
ZFHX1B ZFHX1B Mutation Database University of Friedrich-Alexander, Germany

Intermediate filament mutation database Dundee University, UK
Neuromuscular disease centre Washington University School of Medicine, St. Louis, USA
Globin gene server Pennsylvania University, USA
Eye disease mutation database (KMeyeDB)
note - registration required
Keio University School of Medicine, Tokyo, Japan
Heart disease mutation database (KMheartDB)
note - registration required
Keio University School of Medicine, Tokyo, Japan
Ear disease mutation database (KMearDB)
note - registration required
Keio University School of Medicine, Tokyo, Japan
Brain disease mutation database (KMbrainDB)
note - registration required
Keio University School of Medicine, Tokyo, Japan
Cancer mutation database (KMcancerDB)
note - registration required
Keio University School of Medicine, Tokyo, Japan
M6P/IGF2R GeneImprint
Skin disease mutation database
note - URL not functional
University of North Carolina, USA
G-Protein coupled receptors Tromso, Norway
G-Protein coupled receptors National Institute of Health (Bethesda), USA
G-Protein coupled receptors Radboud University (Nijmegen), Netherlands
G-Protein coupled receptors (RINGdb) National Central University, Taiwan
Mutation spectra database for bacterial and mammalian genes Yale University (Connecticut), USA
Thalassemia database Prince of Songkla University, Thailand
Chaperonin (GroES, GroEL) University of Texas (San Antonio), USA
Asthma gene database
note - password required
GSF National Center (Munich), Germany
Glucocorticoid receptor resource database Georgetown University (Washington), USA
Deafness gene mutation database Harvard University, USA
Serpin database Cambridge Institute for Medical Research, UK
The Singapore Human Mutation And Polymorphism Database Bioinformatics Institute, A*STAR, Singapore
Esther (cholinesterases) The Agro Montpellier, France


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