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.

Variant data
Allele	Unknown
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	04
DNA change	c.182C>A (View in UCSC Genome Browser, Ensembl)
RNA change	-
Protein	p.Ala61Glu
Frequency	-
DB-ID	RPS19_00026
Location	-
Remarks	Missense mutation; the pathogenic role for this mutation was questioned by some authors [Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85]
Molecula Mechanisms	transversion
Functional_Classific	Reduces RPS19 protein levels and impairs nucleolar localization
mRNA_Expression	-
Protein_Expression	Reduced protein levels. Protein instability (in HEK293 cells) [1]
Protein_Localization	No nucleolar localization, no ribosome association(in Hela and HEK293 cells) [1]
rRNA_Metabolism	The yeast orthologue mutation (p.Ala62Ser) does not influence 21S/18S ratio [2]
Protein_Synthesis	-
Cell_Growth	The yeast orthologue mutation (p.Ala62Ser) does not influence the ability of Rps19A protein to support cell growth [2]
Functional_Remarks	-
Functional_Reference	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] 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

p.Ala61Glu

RPS19_00026

Missense mutation; the pathogenic role for this mutation was questioned by some authors [Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85]

transversion

Reduces RPS19 protein levels and impairs nucleolar localization

Reduced protein levels. Protein instability (in HEK293 cells) [1]

No nucleolar localization, no ribosome association(in Hela and HEK293 cells) [1]

The yeast orthologue mutation (p.Ala62Ser) does not influence 21S/18S ratio [2]

The yeast orthologue mutation (p.Ala62Ser) does not influence the ability of Rps19A protein to support cell growth [2]

Diamond-Blackfan Anemia