| 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 (#0000222) |
| Patient ID |
pat1rps2400001 |
| Gender |
na |
| Malformations |
Not available |
| Growth Retardation |
na |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
sporadic?(parents not tested) |
| Reference |
Gazda et al (2006) Am J Hum Genet. 79, 1110-8 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
02 |
| DNA change |
c.46C>T (View in UCSC Genome Browser, Ensembl) |
| RNA change |
r.46C>U |
| Protein |
p.Arg16X |
| Frequency |
- |
| DB-ID |
RPS24_00001 |
| Location |
- |
| Remarks |
Nonsense mutation |
| Molecula Mechanisms |
CpG |
| Functional_Classific |
Unclassified |
| mRNA_Expression |
- |
| Protein_Expression |
Reduced protein expression in lymphoblastoid cell lines obtained from patients [1]. |
| Protein_Localization |
- |
| rRNA_Metabolism |
18S rRNA processing defect as indicated by increase in 30S rRNA (lower 41S/30S ratio) and lower levels of 40S subunit [2]. |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Gazda et al (2006) Am J Hum Genet. 79, 1110-8; [2] Choesmel et al (2008) Hum Mol Genet. [Epub ahead of print] |
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