Description

This annotation consolidates mutations from locus-specific databases and a genome-wide mutation database into a single track. The prototype version includes entries from the few locus-specific databases listed in the Methods section below.

Display Conventions and Configuration

This track is color-coded by the mutation type, the default colors are:

• substitution = purple
• insertion = green
• duplication = orange
• deletion = blue
• complex = brown
• unknown = black

By default items are labeled with the Human Genome Variation Society (HGVS) name. Alternatively, you may configure the browser to display the common name, the feature ID, or no label by changing which label option is selected at the top of the description page.

All mutation types, locations and data sources are included in the default display. To filter the display based on one or more of these characteristics, check the appropriate boxes in the exclusion lists at the top of the description page.

• HbVar database - variants and thalassemia mutations in the globin loci.
• PAHdb - mutations in the phenylalanine hydroxylase (PAH) gene.
• Blood Group Antigen Gene Mutation Database (BGMUT) - mutations in many genes.
• Androgen Receptor Gene Mutations Database (ARdb) - mutations in the AR gene.
• Cystic Fibrosis Mutation Database (CFMDB) - mutations in the CFTR gene.
• UniProt (Swiss-Prot/TrEMBL) - genome-wide data on variants within coding regions.

Credits

PhenCode developers

Belinda Giardine, Ross Hardison, Webb Miller, Cathy Riemer

Center for Comparative Genomics and Bioinformatics, Penn State University, University Park, PA

Fan Hsu, Jim Kent, Andrew Kern, Robert Kuhn, Heather Trumbower

Center for Biomolecular Science and Engineering, University of California, Santa Cruz, CA

Richard Gibbons, Doug Higgs, Jim Hughes

Weatherall Institute of Molecular Medicine, Oxford UK

Garry Cutting, Andrew P. Feinberg

Johns Hopkins University School of Medicine, Baltimore, MD

Cooperating databases

ARdb:

Dr. Bruce Gottlieb, Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital Montreal, Quebec, Canada

BGMUT:

Olga O. Blumenfeld, Ph.D., Professor
Santosh K. Patnaik
Dept. of Biochemistry, Albert Einstein College of Medicine, Bronx, NY

CFMDB:

Dr. Julian Zielenski, Dr. Richard Sang, The Hospital for Sick Children, Genetics and Genomic Biology, Ontario, Canada

HbVar:

George Patrinos, Erasmus University, Rotterdam, Netherlands
Henri Wajcman, Hospital Henri Mondor, Creteil, France
David H.K. Chui, Boston University, Boston, MA
Nicholas Anagnou, U. Athens and IIBEAA, Athens, Greece
Georgi D. Efremov, Macedonian Academy of Sciences and Arts, RCGEB, Skopje, Macedonia

PAH:

Charles R. Scriver MDCM FRS, Alva Professor Emeritus of Human Genetics, McGill University, Montreal Children's Hospital Research Institute, Canada

UniProt (Swiss-Prot/TrEMBL):

Swiss Institute of Bioinformatics, Geneva, Switzerland