| 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 (#0000066) |
| Patient ID |
pat1rps1900024 |
| Gender |
m |
| Malformations |
None |
| Growth Retardation |
no |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
de novo, in patient |
| Reference |
Orfali et al (2004) Br J Haematol 125, 243-52 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
03 |
| DNA change |
c.169G>C (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Ala57Pro |
| Frequency |
- |
| DB-ID |
RPS19_00024 |
| 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 HEK293 cells) [1] |
| Protein_Localization |
No nucleolar localization, no ribosome association(in Hela and HEK293 cells) [1] |
| rRNA_Metabolism |
- |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7 |
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