| About this overview [Show] |
| This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant. |
| Patient data (#0000093) |
| Patient ID |
pat2rps1900031 |
| Gender |
f |
| Malformations |
None |
| Growth Retardation |
yes |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
familial |
| Reference |
Willig et al (1999) Blood 94, 4294-306 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Paternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
04 |
| DNA change |
c.302G>A (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Arg101His |
| Frequency |
- |
| DB-ID |
RPS19_00031 |
| Location |
- |
| Remarks |
Missense mutation |
| Molecula Mechanisms |
CpG |
| Functional_Classific |
Impairs ribosomal association but not nucleolar localization |
| mRNA_Expression |
Normal mRNA levels (peripheral blood MNC) [1] |
| Protein_Expression |
Apparently normal protein levels. Intermediate stability and increased degradation, partly mediated by proteasome (HEK293) [2] |
| Protein_Localization |
Nucleolar localization, but no ribosome association (HeLa-HEK293) [2]. |
| rRNA_Metabolism |
- |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Gazda et al (2004) Br J Haematol 127, 105-13; [2] Angelini et al (2007) Hum Mol Genet 16, 1720-7 |
|
