Search: onr:"swepub:oai:lup.lub.lu.se:bc935c0f-84f2-45f1-a8c5-a64aa5f00791" >
BTKbase, Bruton Tyr...
-
Schaafsma, Gerard C.P.Lund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,Protein Bioinformatics,Lund University Research Groups
(author)
BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia : Looking Back and Ahead
- Article/chapterEnglish2023
Publisher, publication year, extent ...
Numbers
-
LIBRIS-ID:oai:lup.lub.lu.se:bc935c0f-84f2-45f1-a8c5-a64aa5f00791
-
https://lup.lub.lu.se/record/bc935c0f-84f2-45f1-a8c5-a64aa5f00791URI
-
https://doi.org/10.1155/2023/5797541DOI
-
http://kipublications.ki.se/Default.aspx?queryparsed=id:153720075URI
Supplementary language notes
-
Language:English
-
Summary in:English
Part of subdatabase
Classification
-
Subject category:art swepub-publicationtype
-
Subject category:ref swepub-contenttype
Notes
-
BTKbase is an international database for disease-causing variants in Bruton tyrosine kinase (BTK) leading to X-linked agammaglobulinemia (XLA), a rare primary immunodeficiency of antibody production. BTKbase was established in 1994 as one of the first publicly available variation databases. The number of cases has more than doubled since the last update; it now contains information for 2310 DNA variants in 2291 individuals. 1025 of the DNA variants are unique. The human genome contains more than 500 protein kinases, among which BTK has the largest number of unique disease-causing variants. The current version of BTKbase has numerous novel features: the database has been reformatted, it has moved to LOVD database management system, it has been internally harmonized, etc. Systematics and standardization have been increased, including Variation Ontology annotations for variation types. There are some regions with lower than expected variation frequency and some hotspots for variations. BTKbase contains, in addition to variant descriptions at DNA, RNA and protein levels, also laboratory parameters and clinical features for many patients. BTKbase has served clinical and research communities in the diagnosis of XLA cases and provides general insight into effects of variations, especially in signalling pathways. Amino acid substitutions and their effects were investigated, predicted, and visualized at 3D level in the protein domains. BTKbase is freely available.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
-
Väliaho, Jouni
(author)
-
Wang, QingKarolinska University Hospital
(author)
-
Berglöf, AnnaKarolinska University Hospital
(author)
-
Zain, RulaKarolinska Institutet
(author)
-
Smith, C. I.EdvardKarolinska Institutet
(author)
-
Vihinen, MaunoLund University,Lunds universitet,Proteinbioinformatik,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Protein Bioinformatics,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments(Swepub:lu)med-mnv
(author)
-
ProteinbioinformatikForskargrupper vid Lunds universitet
(creator_code:org_t)
Related titles
-
In:Human Mutation20231059-7794
Internet link
Find in a library
To the university's database