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 (#0000072)
Patient ID	pat10rps1900027
Gender	na
Malformations	Not available
Growth Retardation	na
Steroid Response	yes
Complications	-
Variant Origin	familial
Reference	Gazda et al (2004) Br J Haematol 127, 105-13
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

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.184C>T

p.Arg62Trp

RPS19_00027

Missense mutation

CpG

Impairs ribosomal association but not nucleolar localization

Normal mRNA levels (BM CD34+ and peripheral blood MNC) [1]

Apparently normal protein levels [2,3]. Intermediate stability and increased degradation, partly mediated by proteasome (Cos7-HEK293) [2]

Nucleolar localization, but no ribosome association(Cos7-HeLa-HEK293) [2,3]

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]

The yeast orthologue mutation (p.Arg63Gln) impairs cell growth in yeast [4]

[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

Diamond-Blackfan Anemia

ribosomal protein S19 (RPS19)