| 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 (#0000091) |
| Patient ID |
pat1rps1900029 |
| Gender |
na |
| Malformations |
Not available |
| Growth Retardation |
na |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
sporadic?(parents not tested) |
| Reference |
Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85 |
| Template |
RNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
04 |
| DNA change |
c.191T>C (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Leu64Pro |
| Frequency |
- |
| DB-ID |
RPS19_00029 |
| Location |
- |
| Remarks |
Missense mutation |
| Molecula Mechanisms |
transition |
| Functional_Classific |
Unclassified |
| mRNA_Expression |
- |
| Protein_Expression |
- |
| Protein_Localization |
- |
| rRNA_Metabolism |
The yeast orthologue mutation (p.Ile65Pro) causes 18S rRNA processing defect, as indicated by increase in 21S rRNA and nucleolar accumulation of pre-40S particles [1] |
| Protein_Synthesis |
- |
| Cell_Growth |
The yeast orthologue mutation (p.Ile65Pro) abolishes the ability of Rps19A protein to support cell growth [1] |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85 |
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