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.

13 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.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	pat7rps1900027	m	Bilateral congenital glaucoma, congenital inguinal hernia, right thenar eminence hypoplasia, right ear fistula	no	na	-	de novo, in patient	Ramenghi et al (2000) Blood Cells Mol Dis 26, 417-22	DNA	SEQ	-	1
+/+	04	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	pat11rps1900027	f	Webbed neck, flat thenar	no	yes	-	sporadic?(parents not tested)	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	04	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	pat12rps1900027	f	Congenital cataracts, glaucoma	yes	yes	-	sporadic?(parents not tested)	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	04	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	pat10rps1900027	na	Not available	na	yes	-	familial	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/+	04	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	pat8rps1900027	m	None	na	na	-	de novo, in patient	Ramenghi et al (2000) Blood Cells Mol Dis 26, 417-22	DNA	SEQ	-	1
+/+	04	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	pat9rps1900027	f	None	no	na	-	de novo, in patient	Campagnoli et al (2004) Haematologica 89, 480-9	DNA	SEQ	-	1
+/+	04	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	pat3rps1900027	f	Triphalangeal thumb, anogenital fistula, interventricular septal defect	no	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	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	pat13rps1900027	f	Not available	na	na	-	sporadic	U. Ramenghi, Dept. Pediatrics Università di Torino	DNA	SEQ	-	1
+/+	04	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	pat6rps1900027	m	Micrognathia, proximal implanted thumbs	yes	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	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	pat1rps1900027	m	None	yes	na	-	de novo, in patient	Draptchinskaia et al (1999) Nat Genet 21, 169-75	DNA	SEQ	-	1
+/+	04	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	pat4rps1900027	m	None	no	na	-	familial	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	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	pat2rps1900027	f	None	no	na	-	familial	Draptchinskaia et al (1999) Nat Genet 21, 169-75	DNA	SEQ	-	1
+/+	04	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	pat5rps1900027	m	None	no	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	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)