View all contents - Diamond-Blackfan Anemia - Leiden Open Variation Database

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The variants below are all in the RPS19 database. 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.

220 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


+/+	05	c.384_385delAA	-	p.Asp130SerfsX23	-	RPS19_00058	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat3rps1900058	f	None	na	na	-	sporadic?(parents not tested)	Ramenghi et al (2000) Blood Cells Mol Dis 26, 417-22	DNA	SEQ	-	1
+/+	05	c.384_385delAA	-	p.Asp130SerfsX23	-	RPS19_00058	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat2rps1900058	f	None	no	na	-	sporadic?(parents not tested)	Orfali et al (2004) Br J Haematol 125, 243-52	DNA	SEQ	-	1
+/+	05	c.384_385delAA	-	p.Asp130SerfsX23	-	RPS19_00058	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900058	m	None	no	yes	-	familial	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	05	c.384_385delAA	-	p.Asp130SerfsX23	-	RPS19_00058	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat8rps1900058	m	Not available	na	na	-	? (unknown)	Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris	DNA	PCR	-	1
+/+	05	c.384_385delAA	-	p.Asp130SerfsX23	-	RPS19_00058	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat5rps1900058	m	None	no	yes	-	familial	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	05	c.384_385delAA	-	p.Asp130SerfsX23	-	RPS19_00058	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat7rps1900058	f	Not available	na	na	-	? (unknown)	Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris	DNA	PCR	-	1
+/+	05	c.384_385delAA	-	p.Asp130SerfsX23	-	RPS19_00058	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat6rps1900058	f	None	no	no	-	de novo, in patient	Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris	DNA	PCR	-	1
+/+	05	c.386_387ins8	-	p.Leu131Lysfs	-	RPS19_00059	-	Insertion	-	-	-	-	-	-	-	-	-	-	pat1rps1900059	m	None	yes	na	-	de novo, in patient	Cmejla et al (2000) Blood Cells Mol Dis 26, 124-32	DNA	SEQ, Analytical agarose gel electrophoresis	-	1
+/+	05	c.390_391delTC	-	p.Leu131GlyfsX22	-	RPS19_00060	-	Deletion	-	-	-	-	-	-	-	-	-	-	pat1rps1900060	f	Microcephaly	yes	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+?	05	c.392T>C	-	p.Leu131Pro	-	RPS19_00035	-	Missense mutation	transition	-	-	-	-	-	-	-	-	-	pat1rps1900035	f	None	na	na	-	sporadic?(parents not tested)	Proust et al (2003) Hematol J 4, 132-6	DNA	SEQ	-	1
+/+?	05	c.392T>G	-	p.Leu131Arg	-	RPS19_00034	-	Missense mutation	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900034	na	None	na	na	-	familial	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/+	05	c.401_402insT	-	p.Ala135ArgfsX19	-	RPS19_00127	-	Insertion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900127	f	Not available	na	na	-	? (unknown)	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+/+?	05	c.403G>A	-	p.Ala135Thr	-	RPS19_00036	-	Missense mutation	CpG	-	-	-	-	-	-	-	-	-	pat1rps1900036	f	Not available	na	na	-	sporadic?(parents not tested)	Campagnoli et al (2008) Hum Mutat Apr 15	DNA	SEQ	-	1
+/+	05	c.411+1G>A	-	p.Gly120Trpfs	-	RPS19_00077	Intron 5	Donor splice site defect; exon 5 deletion	transition	Reduces RPS19 mRNA levels	Reduced to 60% of controls (wt 50%-mutant 10%) in lymphoblastoid cell lines [1]. Nonstop decay of mRNA with skipped exon 5. More than one aberrantly spliced mRNA could be present.	-	-	-	-	-	translation inhibition by cycloheximide stabilizes the mutant mRNA form, as expected in NMD and non stop decay	[1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33	pat2rps1900077	m	None	na	na	-	de novo, in patient	Campagnoli et al (2008) Hum Mutat Apr 15	DNA	SEQ	-	1
+/+	05	c.411+1G>A	-	p.Gly120Trpfs	-	RPS19_00077	Intron 5	Donor splice site defect; exon 5 deletion	transition	Reduces RPS19 mRNA levels	Reduced to 60% of controls (wt 50%-mutant 10%) in lymphoblastoid cell lines [1]. Nonstop decay of mRNA with skipped exon 5. More than one aberrantly spliced mRNA could be present.	-	-	-	-	-	translation inhibition by cycloheximide stabilizes the mutant mRNA form, as expected in NMD and non stop decay	[1] Chatr-Aryamontri et al (2004) Hum Mutat 24, 526-33	pat1rps1900077	m	None	no	na	-	de novo, in patient	Ramenghi et al (2000) Blood Cells Mol Dis 26, 417-22	DNA	SEQ	-	1
+/?	06	c.412-13_417del	-	p.0?	-	RPS19_00113	Intron 5/Exon 6	Deletion	-	-	-	-	-	-	-	-	-	-	pat1rps1900113	m	None	no	na	-	de novo, in patient	Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris	DNA	PCR	-	1
+/+	06	c.412delG	-	p.Val138Trpfs	-	RPS19_00061	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900060	f	None	no	na	-	de novo, in patient	Campagnoli et al (2008) Hum Mutat Apr 15	DNA	SEQ	-	1
+/+	06	c.417delA	-	p.Ala140Leufs	-	RPS19_00062	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900062	m	None	yes	yes	-	sporadic?(parents not tested)	Campagnoli et al (2008) Hum Mutat Apr 15	DNA	SEQ	-	1
+/+	06	c.418delG	-	p.Ala140Leufs	-	RPS19_00093	-	Deletion	-	-	-	-	-	-	-	-	-	-	pat1rps1900093	f	Not available	na	na	-	sporadic?(parents not tested)	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	06	c.435_*3del	-	p.His145Glnfs	-	RPS19_00063	-	Deletion	-	-	-	-	-	-	-	-	-	-	pat1rps1900063	m	None	na	na	-	de novo, in patient	Proust et al (2003) Hematol J 4, 132-6	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)