| | |  | | | | Record from Web of Science® | | | | | | |
| BTKbase, mutation database for X-linked agammaglobulinemia (XLA) |
|
|
| Author(s): Vihinen M, Iwata T, Kinnon C, Kwan SP, Ochs HD, Vorechovsky I, Smith CIE |
| Source: NUCLEIC ACIDS RESEARCH Volume: 24 Issue: 1 Pages: 160-165 Published: JAN 1 1996 |
| Times Cited: 49 References: 60 |
| Abstract: X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 225 entries from 189 unrelated families showing 148 unique molecular events. Each patient is given a unique patient identity number (PIN). Information is included regarding the phenotype including symptoms. Mutations in all the five domains of BTK have been noticed to cause the disease, the most common event being missense mutations. The mutations appear almost uniformly throughout the molecule and frequently affect CpG sites forming arginine residues. A decreased frequency of missense mutations was found in the TH, SH3 and upper lobe of the kinase domain. The putative structural implications of all the missense mutations are given in the database. |
| Document Type: Article |
| Language: English |
| Reprint Address: Vihinen, M (reprint author), HELSINKI UNIV, DIV BIOCHEM, DEPT BIOSCI, POB 56, SF-00014 HELSINKI, FINLAND |
Addresses:
1. KAROLINSKA INST, NOVUM, DEPT BIOSCI, CTR STRUCT BIOCHEM, S-14157 HUDDINGE, SWEDEN
2. UNIV TOKYO, FAC MED, DEPT PEDIAT, TOKYO 112, JAPAN
3. INST CHILD HLTH, MOLEC IMMUNOL UNIT, LONDON WC1N 1EH, ENGLAND
4. RUSH MED SCH, DEPT IMMUNOL, CHICAGO, IL 60612 USA
5. UNIV WASHINGTON, DEPT PEDIAT, SEATTLE, WA 98195 USA
6. KAROLINSKA INST, NOVUM, DEPT BIOSCI, CTR BIOTECHNOL, S-14157 HUDDINGE, SWEDEN
7. KAROLINSKA INST, HUDDINGE HOSP, DEPT CLIN IMMUNOL, S-14186 HUDDINGE, SWEDEN |
| Publisher: OXFORD UNIV PRESS UNITED KINGDOM, WALTON ST JOURNALS DEPT, OXFORD, ENGLAND OX2 6DP |
| Subject Category: Biochemistry & Molecular Biology |
| IDS Number: TR975 |
| ISSN: 0305-1048 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |