KinMutBase, a database of human disease-causing protein kinase mutations

被引:18
|
作者
Stenberg, KAE
Riikonen, PT
Vihinen, M
机构
[1] Tampere Univ, Inst Med Technol, FIN-33101 Tampere, Finland
[2] Univ Helsinki, Dept Biosci, Div Biochem, FIN-00014 Helsinki, Finland
[3] Univ Turku, Dept Comp Sci, FIN-20520 Turku, Finland
关键词
D O I
10.1093/nar/28.1.369
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
KinMutBase (http://www.uta.fi/imt/bioinfo/KinMutBase/) is a registry of mutations in human protein kinases related to-disorders. Kinases are essential cellular signaling molecules, in which mutations can lead to diseases, including immunodeficiencies, cancers and endocrine disorders, The first release of KinMutBase contained information for protein tyrosine kinases. The current release includes also serine/threonine protein kinases, as well as an update of the tyrosine kinases, There are 251 entries altogether, representing 337 families and 621 patients. Mutations appear both in conserved hallmark residues of the kinases as well as in non-homologous sites. The KinMutBase WWW pages provide plenty of information, namely mutation statistics land display, clickable sequences with mutations and changes to restriction enzyme patterns.
引用
收藏
页码:369 / 371
页数:3
相关论文
共 50 条
  • [1] KinMutBase, a database of human disease-causing protein kinase mutations
    Stenberg, KAE
    Riikonen, PT
    Vihinen, M
    NUCLEIC ACIDS RESEARCH, 1999, 27 (01) : 362 - 364
  • [2] KinMutBase:: A registry of disease-causing mutations in protein kinase domains
    Ortutay, C
    Väliaho, J
    Stenberg, K
    Vihinen, M
    HUMAN MUTATION, 2005, 25 (05) : 435 - 442
  • [3] Disease-causing mutations in the human genome
    Antonarakis, SE
    Krawczak, M
    Cooper, DN
    EUROPEAN JOURNAL OF PEDIATRICS, 2000, 159 (Suppl 3) : S173 - S178
  • [4] Disease-causing mutations in the human genome
    Stylianos E. Antonarakis
    Michael Krawczak
    David N. Cooper
    European Journal of Pediatrics, 2000, 159 : S173 - S178
  • [5] CarbDisMut: database on neutral and disease-causing mutations in human carbohydrate-binding proteins
    Shanmugam, N. R. Siva
    Kulandaisamy, A.
    Veluraja, K.
    Gromiha, M. Michael
    GLYCOBIOLOGY, 2024, 34 (04)
  • [6] Influence of Disease-Causing Mutations on Protein Structural Networks
    Prabantu, Vasam Manjveekar
    Naveenkumar, Nagarajan
    Srinivasan, Narayanaswamy
    FRONTIERS IN MOLECULAR BIOSCIENCES, 2021, 7
  • [7] Spectrum of disease-causing mutations in protein secondary structures
    Khan, Sofia
    Vihinen, Mauno
    BMC STRUCTURAL BIOLOGY, 2007, 7
  • [8] Insights into the effects of disease-causing mutations in human actins
    Rubenstein, Peter A.
    Wen, Kuo-Kuang
    CYTOSKELETON, 2014, 71 (04) : 211 - 229
  • [9] Functional analysis of disease-causing mutations in human galactokinase
    Timson, DJ
    Reece, RJ
    EUROPEAN JOURNAL OF BIOCHEMISTRY, 2003, 270 (08): : 1767 - 1774
  • [10] The integrated database for mutations in disease-causing genes:: Mutation View KMDB
    Ohtsubo, M
    Shimizu, N
    Minoshima, S
    SEIKAGAKU, 2003, 75 (04): : 311 - 318