التفاصيل البيبلوغرافية
| العنوان: |
Distribution of OPA1 variants. |
| المؤلفون: |
Nicole Weisschuh (166859), Simone Schimpf-Linzenbold (11105963), Pascale Mazzola (9697346), Sinja Kieninger (8780231), Ting Xiao (38895), Ulrich Kellner (845929), Teresa Neuhann (483426), Carina Kelbsch (9697352), Felix Tonagel (9697349), Helmut Wilhelm (3445853), Susanne Kohl (51398), Bernd Wissinger (24666) |
| سنة النشر: |
2021 |
| المجموعة: |
Smithsonian Institution: Digital Repository |
| مصطلحات موضوعية: |
Medicine, Microbiology, Genetics, Infectious Diseases, Virology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, atrophy, splice sites, copy number variations, disease-causing alleles, 48 novel variants Autosomal, Splicing analysis, next-generation sequencing platforms, Sanger sequencing, cases harbor, Genetic testing, Genetic screening, heterologous splice assays, splice variants, OPA 1 gene, Forty-eight variants, multiplex ligation-dependent probe ., single-strand conformation polymorphism, mutation spectrum, 20 years, Special emphasis, novel variants |
| الوصف: |
Shown is the isoform that lacks the alternative exons 4b and 5b (NM_015560.2). Exons are represented by grey vertical boxes. Note that exons and intervening intronic sequence (represented by black horizontal line) are not drawn to scale. Each distinct variant observed in our cohort is represented by a single distinct color coded dot above the respective exon or below the respective intron. Structural variants are indicated by horizontal lines above the exons. Shown below the gene structure is the protein with its most important domains including a GTPase domain, a middle domain that is involved in oligomerization, a pleckstrin homology (PH) domain and a GTPase effector domain (GED). The peptide encoded by exons 17–18 (shown in yellow) forms a long helix that connects the GTPase domain and the middle domain. Exons 1 and 2 encode a mitochondrial targeting sequence (MTS) which is cleaved by the mitochondrial processing peptidase (MPP). The N-terminal region encoded by exons 3–8 (shown in orange) does not include specific domains but comprises mitochondrial proteolytic cleavage sites for the mitochondrial processing peptidases OMA1 and YME1L. Protein structure was adapted from Li et al., 2019 [ 109 ]. |
| نوع الوثيقة: |
still image |
| اللغة: |
unknown |
| Relation: |
https://figshare.com/articles/figure/Distribution_of_i_OPA1_i_variants_/14943137 |
| DOI: |
10.1371/journal.pone.0253987.g001 |
| الاتاحة: |
https://doi.org/10.1371/journal.pone.0253987.g001 |
| Rights: |
CC BY 4.0 |
| رقم الانضمام: |
edsbas.2CEE52E4 |
| قاعدة البيانات: |
BASE |