| 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 (#0000047) |
| Patient ID |
pat1rps1900015 |
| Gender |
f |
| Malformations |
None |
| Growth Retardation |
no |
| Steroid Response |
yes |
| Complications |
- |
| Variant Origin |
de novo, in patient |
| Reference |
Willig et al (1999) Blood 94, 4294-306 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
02 |
| DNA change |
c.43G>T (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Val15Phe |
| Frequency |
- |
| DB-ID |
RPS19_00015 |
| Location |
- |
| Remarks |
Missense mutation |
| Molecula Mechanisms |
transversion |
| Functional_Classific |
Reduces RPS19 protein levels and impairs nucleolar localization |
| mRNA_Expression |
- |
| Protein_Expression |
Reduced protein levels. Protein instability (in Cos7 and HEK293 cells) [1,2] |
| Protein_Localization |
No nucleolar localization, no ribosome association(in Cos7 and HEK293 cells) [1,2] |
| rRNA_Metabolism |
The yeast orthologue mutation (p.Ile15Phe) causes 18S rRNA processing defect, as indicated by increase of 21S rRNA and nucleolar accumulation of pre-40S particles [3] |
| Protein_Synthesis |
- |
| Cell_Growth |
The yeast orthologue mutation (p.Ile15Phe) abolishes the ability of Rps19A protein to support cell growth [3] |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85 |
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