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 (#0000117)
Patient ID	pat1rps1900046
Gender	f
Malformations	None
Growth Retardation	yes
Steroid Response	yes
Complications	-
Variant Origin	de novo, in patient
Reference	Cmejla et al (2000) Blood Cells Mol Dis 26, 124-32
Template	DNA
Technique	SEQ, Analytical agarose gel electrophoresis
Remarks	-
# Reported	1

Variant data
Allele	Unknown
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	04
DNA change	c.197_207del (View in UCSC Genome Browser, Ensembl)
RNA change	-
Protein	p.Leu66ArgfsX84
Frequency	-
DB-ID	RPS19_00046
Location	-
Remarks	Deletion; Leucine not effective in increasing translational efficiency in lymphocytes.
Molecula Mechanisms	-
Functional_Classific	Reduces RPS19 protein levels and impairs nucleolar localization
mRNA_Expression	-
Protein_Expression	Protein instability [1]
Protein_Localization	No nucleolar localization [1]
rRNA_Metabolism	-
Protein_Synthesis	Cellular translation rate is not affected in K562 cells, but translation is reduced in patient\\\'s lymphocytes (basal translation: 60% , activated translation: 50%) [1]
Cell_Growth	-
Functional_Remarks	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [1]
Functional_Reference	[1] Cmejlova et al (2006) Haematologica 91, 1456-64

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.197_207del

p.Leu66ArgfsX84

RPS19_00046

Deletion; Leucine not effective in increasing translational efficiency in lymphocytes.

Reduces RPS19 protein levels and impairs nucleolar localization

Protein instability [1]

No nucleolar localization [1]

Cellular translation rate is not affected in K562 cells, but translation is reduced in patient\\\'s lymphocytes (basal translation: 60% , activated translation: 50%) [1]

translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [1]

[1] Cmejlova et al (2006) Haematologica 91, 1456-64

Diamond-Blackfan Anemia

ribosomal protein S19 (RPS19)