| 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 (#0000147) |
| Patient ID |
pat1rps1900067 |
| Gender |
m |
| Malformations |
Macrocephaly, hypotonia, psychomotor retardation |
| Growth Retardation |
na |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
de novo, in patient |
| Reference |
Gustavsson et al (1998) Am J Hum Genet 63, 1388-95 |
| Template |
DNA |
| Technique |
FISH, STR |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
00 |
| DNA change |
deletion of a complete allele (II) |
| RNA change |
- |
| Protein |
p.0 |
| Frequency |
- |
| DB-ID |
RPS19_00067 |
| Location |
- |
| Remarks |
Large deletion; haploinsufficiency |
| Molecula Mechanisms |
- |
| Functional_Classific |
Reduces RPS19 mRNA levels |
| mRNA_Expression |
Decreased to 50% of controls (lymphoblastoid cell lines, BM CD34+) [1,2] |
| Protein_Expression |
- |
| Protein_Localization |
- |
| rRNA_Metabolism |
18S rRNA processing defect, as indicated by increase in 21S pre-rRNA (increased 21S/18SE ratio). BM CD34- cells: ratio 3,3. BM CD34+ cells: ratio 1,7 [3] . Similar effects in yeast [4]. |
| Protein_Synthesis |
- |
| Cell_Growth |
- |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33; [2] Hamaguchi et al (2002) Blood 100, 2724-31; [3] Flygare et al (2007) Blood 109, 980-6; [4] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85 |
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