| 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 (#0000106) |
| Patient ID |
pat2rps1900037 |
| Gender |
f |
| Malformations |
ASD, high arched palate |
| Growth Retardation |
yes |
| Steroid Response |
no |
| Complications |
- |
| Variant Origin |
sporadic?(parents not tested) |
| Reference |
Hanna Gazda, Children's Hospital Boston |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
02 |
| DNA change |
c.13_14insA (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Thr5AsnfrX46 |
| Frequency |
- |
| DB-ID |
RPS19_00037 |
| Location |
- |
| Remarks |
Insertion |
| Molecula Mechanisms |
slippage |
| Functional_Classific |
Reduces RPS19 mRNA levels |
| mRNA_Expression |
Decreased to 50-60% of controls due to NMD of the aberrant mRNA (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 nonstop decay |
| Functional_Reference |
[1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33 |
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