| 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 (#0000168) |
| Patient ID |
pat2rps1900082 |
| Gender |
f |
| Malformations |
Ptosis |
| Growth Retardation |
na |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
familial |
| Reference |
Proust et al (2003) Hematol J 4, 132-6 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Maternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
05 |
| DNA change |
deletion of 295bp spanning exon 5 (nt 357-411 of the cDNA) |
| RNA change |
- |
| Protein |
p.Gly120Trpfs |
| Frequency |
- |
| DB-ID |
RPS19_00082 |
| Location |
- |
| Remarks |
Large deletion |
| Molecula Mechanisms |
- |
| Functional_Classific |
Reduces RPS19 mRNA levels |
| mRNA_Expression |
Reduced to 60% of controls (wt 50%-mutant 10%), aberrant mRNA is subjected to nonstop decay (lymphoblastoid cell lines) [1] |
| Protein_Expression |
- |
| Protein_Localization |
- |
| rRNA_Metabolism |
- |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
translation inhibition by cycloheximide stabilizes the mutant mRNA form, as expected in NMD and non stop decay |
| Functional_Reference |
[1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33 |
|
