CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia
Essential thrombocythemia (ET) is a blood cancer defined by a strong increase of platelet numbers. A quarter of patients suffering from ET show mutations in the last exon of calreticulin (CALR) gene. Two variants named type 1 and type 2 represent 85% of these patients. However, a large number of oth...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2022-01-01
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| Series: | Platelets |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/09537104.2020.1869712 |
| _version_ | 1827816727591780352 |
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| author | Nora El Jahrani Gabriel Cretin Alexandre G. de Brevern |
| author_facet | Nora El Jahrani Gabriel Cretin Alexandre G. de Brevern |
| author_sort | Nora El Jahrani |
| collection | DOAJ |
| description | Essential thrombocythemia (ET) is a blood cancer defined by a strong increase of platelet numbers. A quarter of patients suffering from ET show mutations in the last exon of calreticulin (CALR) gene. Two variants named type 1 and type 2 represent 85% of these patients. However, a large number of other variants have been determined. In this study, we have compiled variants taken from COSMIC database and literature leading to 155 different variants. This large number of variants allowed redefining 5 new classes extending the classification of type 1-like and type 2-like to a finer description. These analyses showed that last class, named E, corresponding to more than 10% of CALR variants seemed not attached to ET. Structural properties analyzed showed that CALR variants associated to ET have common features. All the compiled and refined information had been included into a freely dedicated database CALR-ETdb (https://www.dsimb.inserm.fr/CALR-ET). |
| first_indexed | 2024-03-12T00:25:50Z |
| format | Article |
| id | doaj.art-1066e964cc1643249271e6f2467e7fc2 |
| institution | Directory Open Access Journal |
| issn | 0953-7104 1369-1635 |
| language | English |
| last_indexed | 2024-03-12T00:25:50Z |
| publishDate | 2022-01-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Platelets |
| spelling | doaj.art-1066e964cc1643249271e6f2467e7fc22023-09-15T10:38:09ZengTaylor & Francis GroupPlatelets0953-71041369-16352022-01-0133115716710.1080/09537104.2020.18697121869712CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemiaNora El Jahrani0Gabriel Cretin1Alexandre G. de Brevern2Université de Paris, UMR_S 1134, Université De La Réunion, Université Des AntillesUniversité de Paris, UMR_S 1134, Université De La Réunion, Université Des AntillesUniversité de Paris, UMR_S 1134, Université De La Réunion, Université Des AntillesEssential thrombocythemia (ET) is a blood cancer defined by a strong increase of platelet numbers. A quarter of patients suffering from ET show mutations in the last exon of calreticulin (CALR) gene. Two variants named type 1 and type 2 represent 85% of these patients. However, a large number of other variants have been determined. In this study, we have compiled variants taken from COSMIC database and literature leading to 155 different variants. This large number of variants allowed redefining 5 new classes extending the classification of type 1-like and type 2-like to a finer description. These analyses showed that last class, named E, corresponding to more than 10% of CALR variants seemed not attached to ET. Structural properties analyzed showed that CALR variants associated to ET have common features. All the compiled and refined information had been included into a freely dedicated database CALR-ETdb (https://www.dsimb.inserm.fr/CALR-ET).http://dx.doi.org/10.1080/09537104.2020.1869712classificationdatabasempnprotein structural modelssequence analyses |
| spellingShingle | Nora El Jahrani Gabriel Cretin Alexandre G. de Brevern CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia Platelets classification database mpn protein structural models sequence analyses |
| title | CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia |
| title_full | CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia |
| title_fullStr | CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia |
| title_full_unstemmed | CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia |
| title_short | CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia |
| title_sort | calr etdb the database of calreticulin variants diversity in essential thrombocythemia |
| topic | classification database mpn protein structural models sequence analyses |
| url | http://dx.doi.org/10.1080/09537104.2020.1869712 |
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