| 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 (#0000034) |
| Patient ID |
pat3rps1900011 |
| Gender |
f |
| Malformations |
None |
| Growth Retardation |
no |
| Steroid Response |
no |
| Complications |
- |
| Variant Origin |
de novo, in patient |
| 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.1A>G (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Met1Val |
| Frequency |
- |
| DB-ID |
RPS19_00011 |
| Location |
- |
| Remarks |
Missense mutation |
| Molecula Mechanisms |
transition |
| Functional_Classific |
Reduces RPS19 mRNA levels |
| mRNA_Expression |
Reduced to 70-80% of controls in lymphoblastoid cell lines [1]. Part of the mutated mRNA could use a downstream in-frame AUG, the other is degraded through NMD. |
| Protein_Expression |
Skewed SSU/LSU protein ratio[2] |
| Protein_Localization |
- |
| rRNA_Metabolism |
- |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33; [2]Badhai et al (2009) FEBS Lett 583(12), 2049-53 |
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