| The Alport syndrome COL4A5 variant database. | |
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MedLine Citation:
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PMID: 20574986 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Alport Syndrome is a progressive renal disease with cochlear and ocular involvement. The most common form ( approximately 80%) is inherited in an X-linked pattern. X-linked Alport Syndrome (XLAS) is caused by mutations in the type IV collagen alpha chain 5 (COL4A5). We have developed a curated disease-specific database containing reported sequence variants in COL4A5. Currently the database archives a total of 520 sequence variants, verified for their position within the COL4A5 gene and named following standard nomenclature. Sequence variants are reported with accompanying information on protein effect, classification of mutation vs. polymorphism, mutation type based on the first description in the literature, and links to pertinent publications. In addition, features of this database include disease information, relevant links for Alport syndrome literature, reference sequence information, and ability to query by various criteria. On-line submission for novel gene variants or updating information on existing database entries is also possible. This free online scientific resource was developed with the clinical laboratory in mind to serve as a reference and repository for COL4A5 variants. |
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Authors:
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David K Crockett; Genevieve Pont-Kingdon; Frederick Gedge; Kelli Sumner; Ryan Seamons; Elaine Lyon |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human mutation Volume: 31 ISSN: 1098-1004 ISO Abbreviation: Hum. Mutat. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-21 Completed Date: 2010-10-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9215429 Medline TA: Hum Mutat Country: United States |
Other Details:
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Languages: eng Pagination: E1652-7 Citation Subset: IM |
Affiliation:
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ARUP Laboratories, Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA. david.crockett@aruplab.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Access to Information Base Sequence Collagen Type IV / genetics* Databases, Genetic* Humans Mutation / genetics* Nephritis, Hereditary / genetics* Software |
| Chemical | |
Reg. No./Substance:
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0/COL4A5 protein, human; 0/Collagen Type IV |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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