| 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 (#0000052) |
| Patient ID |
pat1rps1900019 |
| Gender |
m |
| Malformations |
Not available |
| Growth Retardation |
na |
| Steroid Response |
yes |
| Complications |
- |
| Variant Origin |
de novo, in patient |
| Reference |
Ramenghi et al (2000) Blood Cells Mol Dis 26, 417-22 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
03 |
| DNA change |
c.140C>T (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Pro47Leu |
| Frequency |
- |
| DB-ID |
RPS19_00019 |
| Location |
- |
| Remarks |
Missense mutation |
| Molecula Mechanisms |
transition |
| Functional_Classific |
Impairs ribosomal association but not nucleolar localization |
| mRNA_Expression |
- |
| Protein_Expression |
Apparently normal protein levels. Intermediate stability (HEK293) [1,2] |
| Protein_Localization |
Nucleolar localization, but no ribosome association(HeLa-HEK293) [1] |
| rRNA_Metabolism |
No alteration in polysomal profile. 18S rRNA processing defect, as indicated by increased ratio of 21S to 18SE pre-rRNA (lymphoblastoid cell lines) [2] |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
21S/18SE ratio was not reported for this single mutation, but for 6 DBA lymphoblastoid cell lines with 3 different RPS19 mutations (mean value DBA: 1,22-/-0,39; controls: 0,68+/-0,1) [2] |
| Functional_Reference |
[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Idol et al (2007) Blood Cells Mol Dis 39, 35-43 |
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