Full database search - Diamond-Blackfan Anemia - Leiden Open Variation Database

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The variants below are all in the RPS19 database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than RPS19, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the RPS19 full legend here.

9 public entries
entries per page

Path.

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

Patient ID

Gender

Malformations

Growth Retardation

Steroid Response

Complications

Variant Origin

Reference

Template

Technique

Remarks

# Reported


+/+	04	c.185G>A	-	p.Arg62Gln	-	RPS19_00028	-	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 (HEK293) [1]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [1]. It alters the ultrastructural nucleolar organization in dermal fibroblasts [2]	18S rRNA processing defect both in yeast (orthologue mutation: p.Arg63Gln) and in human dermal fibroblasts, as indicated by increase in 21S pre-rRNA [2,3]. Accumulation of 45S and 41S precursors is observed in dermal fibroblasts [2]; yeast cells show nucleolar accumulation of pre-40S particles [3]	Translation rate reduced to 56% of controls after transfection in K562 cells [4]. In lymphocytes, translation is reduced to 66% of controls in basal conditions and to 62% after PHA activation [4]	The human mutation impairs growth of skin fibroblasts [2] and the yeast orthologue mutation (p.Arg63Gln) impairs but does not abolish cell growth in yeast [3]	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [4]	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2]Choesmel et al (2007) Blood 109, 1275-83; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85; [4] Cmejlova et al (2006) Haematologica 91, 1456-64	pat1rps1900028	m	Epicanthus, hypertelorism	no	na	-	de novo, in patient	Cmejla et al (2000) Blood Cells Mol Dis 26, 124-32	DNA	SEQ	-	1
+/+	04	c.185G>A	-	p.Arg62Gln	-	RPS19_00028	-	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 (HEK293) [1]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [1]. It alters the ultrastructural nucleolar organization in dermal fibroblasts [2]	18S rRNA processing defect both in yeast (orthologue mutation: p.Arg63Gln) and in human dermal fibroblasts, as indicated by increase in 21S pre-rRNA [2,3]. Accumulation of 45S and 41S precursors is observed in dermal fibroblasts [2]; yeast cells show nucleolar accumulation of pre-40S particles [3]	Translation rate reduced to 56% of controls after transfection in K562 cells [4]. In lymphocytes, translation is reduced to 66% of controls in basal conditions and to 62% after PHA activation [4]	The human mutation impairs growth of skin fibroblasts [2] and the yeast orthologue mutation (p.Arg63Gln) impairs but does not abolish cell growth in yeast [3]	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [4]	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2]Choesmel et al (2007) Blood 109, 1275-83; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85; [4] Cmejlova et al (2006) Haematologica 91, 1456-64	pat3rps1900028	f	Low hairline, prognatism	na	na	-	sporadic?(parents not tested)	Proust et al (2003) Hematol J 4, 132-6	DNA	SEQ	-	1
+/+	04	c.185G>A	-	p.Arg62Gln	-	RPS19_00028	-	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 (HEK293) [1]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [1]. It alters the ultrastructural nucleolar organization in dermal fibroblasts [2]	18S rRNA processing defect both in yeast (orthologue mutation: p.Arg63Gln) and in human dermal fibroblasts, as indicated by increase in 21S pre-rRNA [2,3]. Accumulation of 45S and 41S precursors is observed in dermal fibroblasts [2]; yeast cells show nucleolar accumulation of pre-40S particles [3]	Translation rate reduced to 56% of controls after transfection in K562 cells [4]. In lymphocytes, translation is reduced to 66% of controls in basal conditions and to 62% after PHA activation [4]	The human mutation impairs growth of skin fibroblasts [2] and the yeast orthologue mutation (p.Arg63Gln) impairs but does not abolish cell growth in yeast [3]	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [4]	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2]Choesmel et al (2007) Blood 109, 1275-83; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85; [4] Cmejlova et al (2006) Haematologica 91, 1456-64	pat2rps1900028	na	None	yes	na	-	familial	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/+	04	c.185G>A	-	p.Arg62Gln	-	RPS19_00028	-	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 (HEK293) [1]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [1]. It alters the ultrastructural nucleolar organization in dermal fibroblasts [2]	18S rRNA processing defect both in yeast (orthologue mutation: p.Arg63Gln) and in human dermal fibroblasts, as indicated by increase in 21S pre-rRNA [2,3]. Accumulation of 45S and 41S precursors is observed in dermal fibroblasts [2]; yeast cells show nucleolar accumulation of pre-40S particles [3]	Translation rate reduced to 56% of controls after transfection in K562 cells [4]. In lymphocytes, translation is reduced to 66% of controls in basal conditions and to 62% after PHA activation [4]	The human mutation impairs growth of skin fibroblasts [2] and the yeast orthologue mutation (p.Arg63Gln) impairs but does not abolish cell growth in yeast [3]	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [4]	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2]Choesmel et al (2007) Blood 109, 1275-83; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85; [4] Cmejlova et al (2006) Haematologica 91, 1456-64	pat4rps1900028	na	Not available	na	na	-	familial	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/+	04	c.185G>A	-	p.Arg62Gln	-	RPS19_00028	-	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 (HEK293) [1]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [1]. It alters the ultrastructural nucleolar organization in dermal fibroblasts [2]	18S rRNA processing defect both in yeast (orthologue mutation: p.Arg63Gln) and in human dermal fibroblasts, as indicated by increase in 21S pre-rRNA [2,3]. Accumulation of 45S and 41S precursors is observed in dermal fibroblasts [2]; yeast cells show nucleolar accumulation of pre-40S particles [3]	Translation rate reduced to 56% of controls after transfection in K562 cells [4]. In lymphocytes, translation is reduced to 66% of controls in basal conditions and to 62% after PHA activation [4]	The human mutation impairs growth of skin fibroblasts [2] and the yeast orthologue mutation (p.Arg63Gln) impairs but does not abolish cell growth in yeast [3]	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [4]	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2]Choesmel et al (2007) Blood 109, 1275-83; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85; [4] Cmejlova et al (2006) Haematologica 91, 1456-64	pat5rps1900028	na	Not available	na	na	-	familial	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/+	04	c.185G>A	-	p.Arg62Gln	-	RPS19_00028	-	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 (HEK293) [1]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [1]. It alters the ultrastructural nucleolar organization in dermal fibroblasts [2]	18S rRNA processing defect both in yeast (orthologue mutation: p.Arg63Gln) and in human dermal fibroblasts, as indicated by increase in 21S pre-rRNA [2,3]. Accumulation of 45S and 41S precursors is observed in dermal fibroblasts [2]; yeast cells show nucleolar accumulation of pre-40S particles [3]	Translation rate reduced to 56% of controls after transfection in K562 cells [4]. In lymphocytes, translation is reduced to 66% of controls in basal conditions and to 62% after PHA activation [4]	The human mutation impairs growth of skin fibroblasts [2] and the yeast orthologue mutation (p.Arg63Gln) impairs but does not abolish cell growth in yeast [3]	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [4]	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2]Choesmel et al (2007) Blood 109, 1275-83; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85; [4] Cmejlova et al (2006) Haematologica 91, 1456-64	pat6rps1900028	na	Not available	na	na	-	sporadic?(parents not tested)	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/+	04	c.185G>A	-	p.Arg62Gln	-	RPS19_00028	-	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 (HEK293) [1]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [1]. It alters the ultrastructural nucleolar organization in dermal fibroblasts [2]	18S rRNA processing defect both in yeast (orthologue mutation: p.Arg63Gln) and in human dermal fibroblasts, as indicated by increase in 21S pre-rRNA [2,3]. Accumulation of 45S and 41S precursors is observed in dermal fibroblasts [2]; yeast cells show nucleolar accumulation of pre-40S particles [3]	Translation rate reduced to 56% of controls after transfection in K562 cells [4]. In lymphocytes, translation is reduced to 66% of controls in basal conditions and to 62% after PHA activation [4]	The human mutation impairs growth of skin fibroblasts [2] and the yeast orthologue mutation (p.Arg63Gln) impairs but does not abolish cell growth in yeast [3]	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [4]	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2]Choesmel et al (2007) Blood 109, 1275-83; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85; [4] Cmejlova et al (2006) Haematologica 91, 1456-64	pat7rps1900028	na	Not available	na	na	-	sporadic?(parents not tested)	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/+	04	c.185G>A	-	p.Arg62Gln	-	RPS19_00028	-	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 (HEK293) [1]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [1]. It alters the ultrastructural nucleolar organization in dermal fibroblasts [2]	18S rRNA processing defect both in yeast (orthologue mutation: p.Arg63Gln) and in human dermal fibroblasts, as indicated by increase in 21S pre-rRNA [2,3]. Accumulation of 45S and 41S precursors is observed in dermal fibroblasts [2]; yeast cells show nucleolar accumulation of pre-40S particles [3]	Translation rate reduced to 56% of controls after transfection in K562 cells [4]. In lymphocytes, translation is reduced to 66% of controls in basal conditions and to 62% after PHA activation [4]	The human mutation impairs growth of skin fibroblasts [2] and the yeast orthologue mutation (p.Arg63Gln) impairs but does not abolish cell growth in yeast [3]	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [4]	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2]Choesmel et al (2007) Blood 109, 1275-83; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85; [4] Cmejlova et al (2006) Haematologica 91, 1456-64	pat9rps1900028	m	Not available	na	na	-	familial	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	04	c.185G>A	-	p.Arg62Gln	-	RPS19_00028	-	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 (HEK293) [1]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [1]. It alters the ultrastructural nucleolar organization in dermal fibroblasts [2]	18S rRNA processing defect both in yeast (orthologue mutation: p.Arg63Gln) and in human dermal fibroblasts, as indicated by increase in 21S pre-rRNA [2,3]. Accumulation of 45S and 41S precursors is observed in dermal fibroblasts [2]; yeast cells show nucleolar accumulation of pre-40S particles [3]	Translation rate reduced to 56% of controls after transfection in K562 cells [4]. In lymphocytes, translation is reduced to 66% of controls in basal conditions and to 62% after PHA activation [4]	The human mutation impairs growth of skin fibroblasts [2] and the yeast orthologue mutation (p.Arg63Gln) impairs but does not abolish cell growth in yeast [3]	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [4]	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2]Choesmel et al (2007) Blood 109, 1275-83; [3] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85; [4] Cmejlova et al (2006) Haematologica 91, 1456-64	pat8rps1900028	f	Not available	na	na	-	familial	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1

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* ABBREVIATIONS *
BM=bone marrow, MNC=mononuclear cells, NMD=nonsense mediated decay

Legend: [ RPS19 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering ('00' indicates all exons). DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Frequency: Frequency of polymorphism. RPS19 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Location: Variant location at DNA level. Remarks: Description of the variant Molecula Mechanisms: Molecular mechanisms Functional_Classific: Effects of RPS19 mutations on its functions. mRNA_Expression: Effects on mRNA expression Protein_Expression: Effects on protein expression Protein_Localization: Protein localization rRNA_Metabolism: Effects on rRNA metabolism Protein_Synthesis: Evaluation of protein synthesis Cell_Growth: Effects on cell growth Functional_Remarks: Functional classification comments Functional_Reference: Functional classification reference Patient ID: Internal reference to the patient. Gender: Patient gender Malformations: Malformations associated to the allelic variant. Growth Retardation: Growth retardation. Steroid Response: Response to steroid treatment. Complications: Medical complications, malignancies Variant Origin: Variant origin Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported

Diamond-Blackfan Anemia

ribosomal protein S19 (RPS19)