LOVD - Variant listings for RPS19

About this overview [Show]

Patient data (#0000161)
Patient ID pat2rps1900077
Gender m
Malformations None
Growth Retardation na
Steroid Response na
Complications -
Variant Origin de novo, in patient
Reference Campagnoli et al (2008) Hum Mutat Apr 15
Template DNA
Technique SEQ
Remarks -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 05
DNA change c.411+1G>A   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Gly120Trpfs
Frequency -
DB-ID RPS19_00077
Location Intron 5
Remarks Donor splice site defect; exon 5 deletion
Molecula Mechanisms transition
Functional_Classific Reduces RPS19 mRNA levels
mRNA_Expression Reduced to 60% of controls (wt 50%-mutant 10%) in lymphoblastoid cell lines [1]. Nonstop decay of mRNA with skipped exon 5. More than one aberrantly spliced mRNA could be present.
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 non stop decay
Functional_Reference [1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33

1 entry in RPS19

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
Location Descending
Ascending
Remarks Descending
Ascending
Molecula Mechanisms Descending
Ascending
Functional_Classific Descending
Ascending
mRNA_Expression Descending
Ascending
Protein_Expression Descending
Ascending
Protein_Localization Descending
Ascending
rRNA_Metabolism Descending
Ascending
Protein_Synthesis Descending
Ascending
Cell_Growth Descending
Ascending
Functional_Remarks Descending
Ascending
Functional_Reference Descending
Ascending
+/+ Unknown 05 c.411+1G>A - p.Gly120Trpfs - RPS19_00077 Intron 5 Donor splice site defect; exon 5 deletion transition Reduces RPS19 mRNA levels Reduced to 60% of controls (wt 50%-mutant 10%) in lymphoblastoid cell lines [1]. Nonstop decay of mRNA with skipped exon 5. More than one aberrantly spliced mRNA could be present. - - - - - translation inhibition by cycloheximide stabilizes the mutant mRNA form, as expected in NMD and non stop decay [1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33