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 (#0000065)
Patient ID	pat4rps1900023
Gender	f
Malformations	None
Growth Retardation	no
Steroid Response	na
Complications	-
Variant Origin	familial
Reference	Cmejla et al (2000) Blood Cells Mol Dis 26, 124-32
Template	DNA
Technique	SEQ
Remarks	-
# Reported	1

Variant data
Allele	Unknown
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	03
DNA change	c.167G>A (View in UCSC Genome Browser, Ensembl)
RNA change	-
Protein	p.Arg56Gln
Frequency	-
DB-ID	RPS19_00023
Location	-
Remarks	Missense mutation; Leucine not effective in increasing translational efficiency in lymphocytes.
Molecula Mechanisms	CpG
Functional_Classific	Impairs ribosomal association but not nucleolar localization
mRNA_Expression	-
Protein_Expression	Apparently normal protein levels. Intermediate stability (Cos7-HEK293) [1,2]
Protein_Localization	Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [1,2]
rRNA_Metabolism	-
Protein_Synthesis	Translation rate reduced to 63% of controls after transfection in K562 cells [3]. In lymphocytes, translation is reduced to 55% of controls both in basal conditions and after PHA activation [3]
Cell_Growth	-
Functional_Remarks	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [3]
Functional_Reference	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] 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.167G>A

p.Arg56Gln

RPS19_00023

Missense mutation; Leucine not effective in increasing translational efficiency in lymphocytes.

CpG

Impairs ribosomal association but not nucleolar localization

Apparently normal protein levels. Intermediate stability (Cos7-HEK293) [1,2]

Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [1,2]

Translation rate reduced to 63% of controls after transfection in K562 cells [3]. In lymphocytes, translation is reduced to 55% of controls both in basal conditions and after PHA activation [3]

translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [3]

[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45; [3] Cmejlova et al (2006) Haematologica 91, 1456-64

Diamond-Blackfan Anemia

ribosomal protein S19 (RPS19)