Variants - Diamond-Blackfan Anemia - Leiden Open Variation Database

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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 (#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

Exon

DNA change

RNA change

Protein

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms

Functional_Classific

mRNA_Expression

Protein_Expression

Protein_Localization

rRNA_Metabolism

Protein_Synthesis

Cell_Growth

Functional_Remarks

Functional_Reference

+/+

Unknown

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

Diamond-Blackfan Anemia

ribosomal protein S19 (RPS19)