| 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 (#0000077) |
| Patient ID |
pat6rps1900027 |
| Gender |
m |
| Malformations |
Micrognathia, proximal implanted thumbs |
| Growth Retardation |
yes |
| Steroid Response |
na |
| Complications |
- |
| Variant Origin |
de novo, in patient |
| Reference |
Willig et al (1999) Blood 94, 4294-306 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
- |
| # Reported |
1 |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
04 |
| DNA change |
c.184C>T (View in UCSC Genome Browser, Ensembl) |
| RNA change |
- |
| Protein |
p.Arg62Trp |
| Frequency |
- |
| DB-ID |
RPS19_00027 |
| Location |
- |
| Remarks |
Missense mutation |
| Molecula Mechanisms |
CpG |
| Functional_Classific |
Impairs ribosomal association but not nucleolar localization |
| mRNA_Expression |
Normal mRNA levels (BM CD34+ and peripheral blood MNC) [1] |
| Protein_Expression |
Apparently normal protein levels [2,3]. Intermediate stability and increased degradation, partly mediated by proteasome (Cos7-HEK293) [2] |
| Protein_Localization |
Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [2,3] |
| rRNA_Metabolism |
The yeast orthologue mutation (R63Q) causes 18S rRNA processing defect, as indicated by increase in 21S rRNA and nucleolar accumulation of pre-40S particles [4] |
| Protein_Synthesis |
- |
| Cell_Growth |
The yeast orthologue mutation (p.Arg63Gln) impairs cell growth in yeast [4] |
| Functional_Remarks |
- |
| Functional_Reference |
[1] Hamaguchi et al (2002) Blood 100, 2724-31; [2] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [3] Da Costa et al (2003) Blood 101, 5039-45; [4] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85 |
|
