caa a22 4500 475786963 CHVBK 20180406123701.0 cr unu---uuuuu 170329e20001201xx s 000 0 eng 10.1007/PL00014395 doi (NATIONALLICENCE)springer-10.1007/PL00014395 Disease-causing mutations in the human genome [Elektronische Daten] [Stylianos E. Antonarakis, Michael Krawczak, David N. Cooper] A considerable number of gene mutations has now been reported in a total of more than 1000 different human genes. Data on these mutations and their associated phenotypes have been collated and are available online through two major databases: Online Mendelian Inheritance in Man in Baltimore and the Human Gene Mutation Database in Cardiff. Since the non-randomness of mutation is determined largely by the local DNA sequence environment, the study of mutation may not only yield information on underlying mechanisms but also lead to the optimization of mutation search strategies. Conclusion There is a high frequency of CG to TG or CA mutations in the human genome due to deamination of 5′methyl-cytosine. The second most common type of mutations in human disorders is short deletions or insertions of less than 20 nucleotides. Springer-Verlag Berlin Heidelberg, 2000 Key words Databases nationallicence Deletions nationallicence Gene mutations nationallicence Insertions nationallicence Substitutions nationallicence Antonarakis Stylianos E. Division of Medical Genetics, University of Geneva Medical School, 1 rue Michel-Servet, 1211 Geneva, Switzerland e-mail: Stylianos.Antonarakis@medecine.unige.ch Tel.: +41-22-7025708; Fax: +41-22-7025706, CH aut Krawczak Michael Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK, GB aut Cooper David N. Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK, GB aut https://doi.org/10.1007/PL00014395 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00014395 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Antonarakis Stylianos E. Division of Medical Genetics, University of Geneva Medical School, 1 rue Michel-Servet, 1211 Geneva, Switzerland e-mail: Stylianos.Antonarakis@medecine.unige.ch Tel.: +41-22-7025708; Fax: +41-22-7025706, CH aut NATIONALLICENCE 700 1- Krawczak Michael Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK, GB aut NATIONALLICENCE 700 1- Cooper David N. Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK, GB aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer