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
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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


+/?	03	c.172+1G>T	-	p.0?	-	RPS19_00087	Intron 3	Donor splice site defect	transversion	-	-	-	-	-	-	-	-	-	pat2rps1900087	m	Not available	na	no	-	de novo, in patient	Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris	DNA	PCR	-	1
+/+	04	LOH 5' to exon 4	-	p.0	-	RPS19_00084	-	Intragenic deletion	-	-	-	-	-	-	-	-	-	-	pat1rps1900084	f	Face, learning	yes	na	-	de novo, in patient (paternal allele)	Orfali et al (2004) Br J Haematol 125, 243-52	DNA	SEQ	-	1
+/+?	04	c.173-7_174del	-	p.0?	-	RPS19_00118	Intron 3/Exon 4	Deletion	-	-	-	-	-	-	-	-	-	-	pat1rps1900118	f	Not available	na	na	-	? (unknown)	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+/+?	04	c.173-2A>G	-	p.0?	-	RPS19_00105	Intron 3	Acceptor splice site defect	transition	-	-	-	-	-	-	-	-	-	pat1rps1900105	f	Low set ears	yes	no	-	de novo, in patient	Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris	DNA	PCR	-	1
+/+	04	c.173-2A>T	-	p.Ala58_Thr60del	-	RPS19_00070	Intron 3	Acceptor splice site defect	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900070	m	None	yes	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	c.173-1delG	-	p.Ala58_Thr60del	-	RPS19_00071	Intron 3	Acceptor splice site defect	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900071	m	None	no	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	c.173-1G>A	-	p.Ala58_Thr60del	-	RPS19_00072	Intron 3	Acceptor splice site defect	transition	Unclassified	Normal mRNA levels (peripheral blood MNC) [1]	-	-	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13	pat1rps1900072	na	Not available	na	na	-	sporadic?(parents not tested)	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/+?	04	c.176C>T	-	p.Ser59Phe	-	RPS19_00025	-	Missense mutation	transition	-	-	-	-	-	-	-	-	-	pat1rps1900025	na	Not available	na	na	-	sporadic?(parents not tested)	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/?	04	c.178A>C	-	p.Thr60Pro	-	RPS19_00092	-	Missense mutation	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900092	f	None	no	yes	-	sporadic?(parents not tested)	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	04	c.182C>A	-	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]	-	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85	pat1rps1900026	f	None	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	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
+/+	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
+?/?	04	c.187_189insCAC	-	p.His63dup	-	RPS19_00119	-	Insertion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900119	m	Flat nose, low hairline, mitral valve and tricuspid vale insufficiency	na	na	-	sporadic	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+/+	04	c.191T>C	-	p.Leu64Pro	-	RPS19_00029	-	Missense mutation	transition	Unclassified	-	-	-	The yeast orthologue mutation (p.Ile65Pro) causes 18S rRNA processing defect, as indicated by increase in 21S rRNA and nucleolar accumulation of pre-40S particles [1]	-	The yeast orthologue mutation (p.Ile65Pro) abolishes the ability of Rps19A protein to support cell growth [1]	-	[1] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85	pat1rps1900029	na	Not available	na	na	-	sporadic?(parents not tested)	Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85	RNA	SEQ	-	1
+/+	04	c.195C>G	-	p.Tyr65X	-	RPS19_00111	-	Nonsense mutation	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900111	na	Not available	na	na	-	? (unknown)	Dagmar Pospisilova, Dept. of Pediatrics, Palacky University, Olomouc	DNA	SEQ	-	1
+/+	04	c.195C>G	-	p.Tyr65X	-	RPS19_00111	-	Nonsense mutation	transversion	-	-	-	-	-	-	-	-	-	pat2rps1900111	na	Not available	na	na	-	? (unknown)	Dagmar Pospisilova, Dept. of Pediatrics, Palacky University, Olomouc	DNA	SEQ	-	1
+/+	04	c.197_207del	-	p.Leu66ArgfsX84	-	RPS19_00046	-	Deletion; Leucine not effective in increasing translational efficiency in lymphocytes.	-	Reduces RPS19 protein levels and impairs nucleolar localization	-	Protein instability [1]	No nucleolar localization [1]	-	Cellular translation rate is not affected in K562 cells, but translation is reduced in patient\\\'s lymphocytes (basal translation: 60% , activated translation: 50%) [1]	-	translation was found reduced in lymphocytes from all the DBA subjects studied irrespective of the presence of RPS19 mutations [1]	[1] Cmejlova et al (2006) Haematologica 91, 1456-64	pat1rps1900046	f	None	yes	yes	-	de novo, in patient	Cmejla et al (2000) Blood Cells Mol Dis 26, 124-32	DNA	SEQ, Analytical agarose gel electrophoresis	-	1
+/+	04	c.203_204insG	-	p.Gly69TrpfsX85	-	RPS19_00109	-	Insertion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900109	f	Not available	na	na	-	sporadic	Niklas Dahl, University Children's Hospital Uppsala	DNA	SEQ	-	1
+/+?	04	c.212G>A	-	p.Gly71Glu	-	RPS19_00120	-	Missense mutation	transition	-	-	-	-	-	-	-	-	-	pat1rps1900120	m	Not available	na	na	-	sporadic	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+/+	04	c.222delC	-	p.Met75X	-	RPS19_00047	-	Nonsense mutation	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900047	m	Epicanthus, low hairline	yes	yes	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+?	04	c.226A>C	-	p.Thr76Pro	-	RPS19_00030	-	Missense mutation	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900030	m	Not available	na	na	-	familial	Campagnoli et al (2008) Hum Mutat Apr 15	DNA	SEQ	-	1
+/+	04	c.233_250del	-	p.Ile78_Gln83del	-	RPS19_00048	-	Deletion	-	-	-	-	-	-	-	-	-	-	pat1rps1900048	f	Not available	na	yes	-	de novo, in patient	Cmejlova et al (2006) Blood Cells Mol Dis 36, 337-41	DNA	SEQ	-	1
+/+	04	c.242_243insG	-	p.Arg82ThrfsX72	-	RPS19_00049	-	Insertion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900049	m	None	no	na	-	sporadic?(parents not tested)	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	c.250_251delAG	-	p.Arg84LysfsX69	-	RPS19_00050	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900050	m	High arched palate, facial asymmetry	no	yes	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	c.250_251insA	-	p.Arg84LysfsX70	-	RPS19_00051	-	Insertion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900051	na	Not available	na	na	-	familial	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/+	04	c.274_304del	-	p.Phe92GlyfsX9	-	RPS19_00052	-	Deletion	-	-	-	-	-	-	-	-	-	-	pat1rps1900052	f	None	yes	yes	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	c.280C>T	-	p.Arg94X	-	RPS19_00007	-	Nonsense mutation	CpG	-	-	-	-	-	-	-	-	-	pat9rps1900007	m	Anal atresia, thumb duplication	na	na	-	de novo, in patient	Campagnoli et al (2008) Hum Mutat Apr 15	DNA	SEQ	-	1
+/+	04	c.280C>T	-	p.Arg94X	-	RPS19_00007	-	Nonsense mutation	CpG	-	-	-	-	-	-	-	-	-	pat4rps1900007	m	Not available	na	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	c.280C>T	-	p.Arg94X	-	RPS19_00007	-	Nonsense mutation	CpG	-	-	-	-	-	-	-	-	-	pat6rps1900007	na	None	na	na	-	sporadic?(parents not tested)	Matsson et al (1999) Hum Genet 105, 496-500	DNA	SEQ, Southern	-	1
+/+	04	c.280C>T	-	p.Arg94X	-	RPS19_00007	-	Nonsense mutation	CpG	-	-	-	-	-	-	-	-	-	pat2rps1900007	f	Glaucoma	no	na	-	familial	Draptchinskaia et al (1999) Nat Genet 21, 169-75	DNA	SEQ	-	1
+/+	04	c.280C>T	-	p.Arg94X	-	RPS19_00007	-	Nonsense mutation	CpG	-	-	-	-	-	-	-	-	-	pat1rps1900007	f	None	no	na	-	familial	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	c.280C>T	-	p.Arg94X	-	RPS19_00007	-	Nonsense mutation	CpG	-	-	-	-	-	-	-	-	-	pat7rps1900007	m	None	na	na	-	de novo, in patient	Proust et al (2003) Hematol J 4, 132-6	DNA	SEQ	-	1
+/+	04	c.280C>T	-	p.Arg94X	-	RPS19_00007	-	Nonsense mutation	CpG	-	-	-	-	-	-	-	-	-	pat10rps1900007	m	None	no	yes	-	sporadic?(parents not tested)	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	04	c.280C>T	-	p.Arg94X	-	RPS19_00007	-	Nonsense mutation	CpG	-	-	-	-	-	-	-	-	-	pat8rps1900007	f	Facial	yes	yes	-	sporadic?(parents not tested)	Orfali et al (2004) Br J Haematol 125, 243-52	DNA	SEQ	-	1
+/+	04	c.280C>T	-	p.Arg94X	-	RPS19_00007	-	Nonsense mutation	CpG	-	-	-	-	-	-	-	-	-	pat3rps1900007	f	Thumb malformation	no	na	-	familial	Draptchinskaia et al (1999) Nat Genet 21, 169-75	DNA	SEQ	-	1
+/+	04	c.280C>T	-	p.Arg94X	-	RPS19_00007	-	Nonsense mutation	CpG	-	-	-	-	-	-	-	-	-	pat5rps1900007	f	None	yes	yes	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/?	04	c.281G>T	-	p.Arg94Leu	-	RPS19_00088	-	Missense mutation	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900088	f	None	na	na	-	sporadic?(parents not tested)	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	04	c.284delG	-	p.Gly95AlafsX16	-	RPS19_00121	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900121	f	ASD	na	na	-	? (unknown)	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+/+	04	c.289_290insAGGC	-	p.Lys97ArgfsX58	-	RPS19_00122	-	Insertion	-	-	-	-	-	-	-	-	-	-	pat1rps1900122	m	Dysplastic aortic valve	na	na	-	? (unknown)	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+/+	04	c.295_296delGT	-	p.Val99GlyfsX54	-	RPS19_00053	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900053	f	None	no	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	c.296_297delTG	-	p.Val99GlyfsX54	-	RPS19_00123	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900123	f	Not available	na	na	-	? (unknown)	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+?/?	04	c.301C>T	-	p.Arg101Cys	-	RPS19_00124	-	Missense mutation	CpG	-	-	-	-	-	-	-	-	-	pat1rps1900124	m	Not available	na	yes	-	? (unknown)	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+/+	04	c.302G>A	-	p.Arg101His	-	RPS19_00031	-	Missense mutation	CpG	Impairs ribosomal association but not nucleolar localization	Normal mRNA levels (peripheral blood MNC) [1]	Apparently normal protein levels. Intermediate stability and increased degradation, partly mediated by proteasome (HEK293) [2]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [2].	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13; [2] Angelini et al (2007) Hum Mol Genet 16, 1720-7	pat2rps1900031	f	None	yes	na	-	familial	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	c.302G>A	-	p.Arg101His	-	RPS19_00031	-	Missense mutation	CpG	Impairs ribosomal association but not nucleolar localization	Normal mRNA levels (peripheral blood MNC) [1]	Apparently normal protein levels. Intermediate stability and increased degradation, partly mediated by proteasome (HEK293) [2]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [2].	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13; [2] Angelini et al (2007) Hum Mol Genet 16, 1720-7	pat1rps1900031	f	Thumb duplication	yes	na	-	familial	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	c.302G>A	-	p.Arg101His	-	RPS19_00031	-	Missense mutation	CpG	Impairs ribosomal association but not nucleolar localization	Normal mRNA levels (peripheral blood MNC) [1]	Apparently normal protein levels. Intermediate stability and increased degradation, partly mediated by proteasome (HEK293) [2]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [2].	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13; [2] Angelini et al (2007) Hum Mol Genet 16, 1720-7	pat7rps1900031	m	Not available	na	na	-	? (unknown)	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+/+	04	c.302G>A	-	p.Arg101His	-	RPS19_00031	-	Missense mutation	CpG	Impairs ribosomal association but not nucleolar localization	Normal mRNA levels (peripheral blood MNC) [1]	Apparently normal protein levels. Intermediate stability and increased degradation, partly mediated by proteasome (HEK293) [2]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [2].	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13; [2] Angelini et al (2007) Hum Mol Genet 16, 1720-7	pat6rps1900031	m	PFO	no	na	-	familial	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	04	c.302G>A	-	p.Arg101His	-	RPS19_00031	-	Missense mutation	CpG	Impairs ribosomal association but not nucleolar localization	Normal mRNA levels (peripheral blood MNC) [1]	Apparently normal protein levels. Intermediate stability and increased degradation, partly mediated by proteasome (HEK293) [2]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [2].	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13; [2] Angelini et al (2007) Hum Mol Genet 16, 1720-7	pat4rps1900031	m	Not available	na	na	-	sporadic?(parents not tested)	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	04	c.302G>A	-	p.Arg101His	-	RPS19_00031	-	Missense mutation	CpG	Impairs ribosomal association but not nucleolar localization	Normal mRNA levels (peripheral blood MNC) [1]	Apparently normal protein levels. Intermediate stability and increased degradation, partly mediated by proteasome (HEK293) [2]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [2].	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13; [2] Angelini et al (2007) Hum Mol Genet 16, 1720-7	pat5rps1900031	m	None	no	na	-	familial	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	04	c.302G>A	-	p.Arg101His	-	RPS19_00031	-	Missense mutation	CpG	Impairs ribosomal association but not nucleolar localization	Normal mRNA levels (peripheral blood MNC) [1]	Apparently normal protein levels. Intermediate stability and increased degradation, partly mediated by proteasome (HEK293) [2]	Nucleolar localization, but no ribosome association (HeLa-HEK293) [2].	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13; [2] Angelini et al (2007) Hum Mol Genet 16, 1720-7	pat3rps1900031	na	Not available	na	na	-	sporadic?(parents not tested)	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+?/?	04	c.305G>C	-	p.Arg102Pro	-	RPS19_00106	-	Missense mutation	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900106	f	None	no	na	-	? (unknown)	Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris	DNA	PCR	-	1
+/+	04	c.307delG	-	p.Val103SerfsX8	-	RPS19_00054	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900054	f	None	na	na	Osteosarcoma	sporadic?(parents not tested)	Matsson et al (1999) Hum Genet 105, 496-500	DNA	SEQ, Southern	-	1
+?/?	04	c.320T>G	-	p.Leu107Arg	-	RPS19_00107	-	Missense mutation	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900107	m	Not available	na	na	-	? (unknown)	Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris	DNA	PCR	-	1
+/+	04	c.328delC	-	p.Leu110X	-	RPS19_00055	-	Deletion	-	-	-	-	-	-	-	-	-	-	pat1rps1900055	m	Face, thumb	na	na	-	de novo, in patient	Orfali et al (2004) Br J Haematol 125, 243-52	DNA	SEQ	-	1
?/?	04	c.338_340delTGG	-	p.Val113del	-	RPS19_00143	-	Deletion	-	-	-	-	-	-	-	-	-	Aspesi et al (2018) Hum Mutat in press	-	f	-	-	-	-	-	-	-	-	-	1
+/+	04	c.340G>T	-	p.Glu114X	-	RPS19_00008	-	Nonsense mutation	transversion	Unclassified	Aberrant mRNA is likely translated	Apparently normal protein levels (lymphoblastoid cell lines) [1]	-	No alteration in polysomal profile. 18S rRNA processing defect, as indicated by increased ratio of 21S to 18SE pre-rRNA (lymphoblastoid cell lines) [1]	-	-	21S/18SE ratio was not reported for this single mutation, but for 6 DBA lymphoblastoid cell lines with 3 different RPS19 mutations (mean value DBA: 1,22-/-0,39; controls: 0,68+/-0,1) [1]	[1] Idol et al (2007) Blood Cells Mol Dis 39, 35-43	pat1rps1900008	na	Not available	na	na	-	sporadic?(parents not tested)	Idol et al (2007) Blood Cells Mol Dis 39, 35-43	DNA	SEQ	-	1
+/+	04	c.341delA	-	p.Lys115ArgfsX9	-	RPS19_00056	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900056	m	None	no	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	04	c.341delA	-	p.Lys115ArgfsX9	-	RPS19_00056	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat2rps1900056	na	Not available	na	na	-	familial	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/+	04	c.344delA	-	p.Lys115ArgfsX9	-	RPS19_00128	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat2rps1900128	f	High palatine	na	na	-	? (unknown)	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+/+	04	c.344delA	-	p.Lys115ArgfsX9	-	RPS19_00128	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900128	f	Not available	na	na	-	familial	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+/+	04	c.344_345insAA	-	p.Asp116ArgfsX9	-	RPS19_00057	-	Insertion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900057	m	Toe	yes	na	-	sporadic?(parents not tested)	Orfali et al (2004) Br J Haematol 125, 243-52	DNA	SEQ	-	1
+/+	04	c.356_357insG	-	p.Gly120ArgfsX34	-	RPS19_00110	-	Donor splice site defect	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900110	na	Not available	na	na	-	? (unknown)	Dagmar Pospisilova, Dept. of Pediatrics, Palacky University, Olomouc	DNA	SEQ	-	1
+/+	04	c.356+1G>A	-	p.Ser59AlafsX4	-	RPS19_00076	Intron 4	Donor splice site defect; exon 4 deletion	transition	Unclassified	Normal mRNA levels (peripheral blood MNC). Abnormally spliced form detected by PCR. Aberrant mRNA is translated [1]	Protein size and levels are normal in peripheral blood MNC [1]	-	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13	pat4rps1900076	f	None	yes	yes	-	sporadic?(parents not tested)	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	04	c.356+1G>A	-	p.Ser59AlafsX4	-	RPS19_00076	Intron 4	Donor splice site defect; exon 4 deletion	transition	Unclassified	Normal mRNA levels (peripheral blood MNC). Abnormally spliced form detected by PCR. Aberrant mRNA is translated [1]	Protein size and levels are normal in peripheral blood MNC [1]	-	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13	pat3rps1900076	f	PFO	yes	yes	-	familial	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	04	c.356+1G>A	-	p.Ser59AlafsX4	-	RPS19_00076	Intron 4	Donor splice site defect; exon 4 deletion	transition	Unclassified	Normal mRNA levels (peripheral blood MNC). Abnormally spliced form detected by PCR. Aberrant mRNA is translated [1]	Protein size and levels are normal in peripheral blood MNC [1]	-	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13	pat1rps1900076	na	Not available	na	na	-	sporadic?(parents not tested)	Gazda et al (2004) Br J Haematol 127, 105-13	DNA	SEQ	-	1
+/+	04	c.356+1G>A	-	p.Ser59AlafsX4	-	RPS19_00076	Intron 4	Donor splice site defect; exon 4 deletion	transition	Unclassified	Normal mRNA levels (peripheral blood MNC). Abnormally spliced form detected by PCR. Aberrant mRNA is translated [1]	Protein size and levels are normal in peripheral blood MNC [1]	-	-	-	-	-	[1] Gazda et al (2004) Br J Haematol 127, 105-13	pat2rps1900076	m	None	yes	na	-	familial	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/?	04	c.356+1G>T	-	p.0?	-	RPS19_00085	Intron 4	Donor splice site defect	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900085	m	None	no	yes	-	sporadic?(parents not tested)	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+?/?	04	c.356+1_356+2delGTins12	-	p.0?	-	RPS19_00108	Intron 4	Donor splice site defect	-	-	-	-	-	-	-	-	-	-	pat1rps1900108	f	Not available	yes	na (corticoid test not performed, regularly transfused)	-	? (unknown)	Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris	DNA	PCR	-	1
+/+	04	c.356+2T>A	-	p.Ser59AlafsX4	-	RPS19_00073	Intron 4	Donor splice site defect; exon 4 deletion	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900073	m	None	no	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	05	deletion of 295bp spanning exon 5 (nt 357-411 of the cDNA)	-	p.Gly120Trpfs	-	RPS19_00082	-	Large deletion	-	Reduces RPS19 mRNA levels	Reduced to 60% of controls (wt 50%-mutant 10%), aberrant mRNA is subjected to nonstop decay (lymphoblastoid cell lines) [1]	-	-	-	-	-	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	pat1rps1900082	f	Hypertelorism,epicanthus, low earset, antimongoloid eyeline	no	na	-	familial	Draptchinskaia et al (1999) Nat Genet 21, 169-75	DNA, RNA	SEQ	-	1
+/+	05	deletion of 295bp spanning exon 5 (nt 357-411 of the cDNA)	-	p.Gly120Trpfs	-	RPS19_00082	-	Large deletion	-	Reduces RPS19 mRNA levels	Reduced to 60% of controls (wt 50%-mutant 10%), aberrant mRNA is subjected to nonstop decay (lymphoblastoid cell lines) [1]	-	-	-	-	-	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	pat2rps1900082	f	Ptosis	na	na	-	familial	Proust et al (2003) Hematol J 4, 132-6	DNA	SEQ	-	1
+/+	05	c.357-1G>A	-	p.Gly120Trpfs	-	RPS19_00075	Intron 4	Acceptor splice site defect; exon 5 deletion	transition	-	-	-	-	-	-	-	-	-	pat1rps1900075	m	None	na	na	-	de novo, in patient	Campagnoli et al (2004) Haematologica 89, 480-9	DNA	SEQ	-	1
+/+	05	c.357-1G>T	-	p.Gly120Trpfs	-	RPS19_00074	Intron 4	Acceptor splice site defect; exon 5 deletion	transversion	-	-	-	-	-	-	-	-	-	pat1rps1900074	m	None	no	na	-	sporadic?(parents not tested)	Campagnoli et al (2004) Haematologica 89, 480-9	DNA	SEQ	-	1
+/+	05	c.357-1G>T	-	p.Gly120Trpfs	-	RPS19_00074	Intron 4	Acceptor splice site defect; exon 5 deletion	transversion	-	-	-	-	-	-	-	-	-	pat2rps1900074	m	None	no	no	-	de novo, in patient	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	05	c.358G>A	-	p.Gly120Ser	-	RPS19_00032	-	Missense mutation	CpG	Unclassified	-	-	-	The yeast orthologue mutation (p.Gly121Ser) does not influence 21S/18S ratio [1]	-	The yeast orthologue mutation (p.Gly121Ser) does not influence the ability of Rps19A protein to support cell growth [1]	-	[1] Léger-Silvestre et al (2005) J Biol Chem 280, 38177-85	pat1rps1900032	f	None	no	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	05	c.372_373insA	-	p.Pro125ThrfsX29	-	RPS19_00129	-	Insertion	slippage	-	-	-	-	-	-	-	-	-	pat1rps1900129	f	Hip subluxation on both sides	na	na	-	sporadic	Joerg Meerpohl, Dept. of Pediatric and Adolescent Medicine, University Medical Center Freiburg	DNA	PCR	-	1
+/+	05	c.376C>T	-	p.Gln126X	-	RPS19_00009	-	Nonsense mutation	transition	Unclassified	Aberrant mRNA is likely translated	Apparently normal protein levels (lymphoblastoid cell lines) [1]	-	No alteration in polysomal profile. 18S rRNA processing defect, as indicated by increased ratio of 21S to 18SE pre-rRNA (lymphoblastoid cell lines) [1]	-	-	21S/18SE ratio was not reported for this single mutation, but for 6 DBA lymphoblastoid cell lines with 3 different RPS19 mutations (mean value DBA: 1,22-/-0,39; controls: 0,68+/-0,1) [1]	[1] Idol et al (2007) Blood Cells Mol Dis 39, 35-43	pat1rps1900009	na	Not available	na	na	-	familial	Idol et al (2007) Blood Cells Mol Dis 39, 35-43	DNA	SEQ	-	1
+/+	05	c.376C>T	-	p.Gln126X	-	RPS19_00009	-	Nonsense mutation	transition	Unclassified	Aberrant mRNA is likely translated	Apparently normal protein levels (lymphoblastoid cell lines) [1]	-	No alteration in polysomal profile. 18S rRNA processing defect, as indicated by increased ratio of 21S to 18SE pre-rRNA (lymphoblastoid cell lines) [1]	-	-	21S/18SE ratio was not reported for this single mutation, but for 6 DBA lymphoblastoid cell lines with 3 different RPS19 mutations (mean value DBA: 1,22-/-0,39; controls: 0,68+/-0,1) [1]	[1] Idol et al (2007) Blood Cells Mol Dis 39, 35-43	pat2rps1900009	m	None	na	no	-	familial	Hanna Gazda, Children's Hospital Boston	DNA	SEQ	-	1
+/+	05	c.380G>A	-	p.Gly127Glu	-	RPS19_00033	-	Missense mutation	transition	Reduces RPS19 protein levels and impairs nucleolar localization	-	Reduced protein levels. Protein instability (in Cos7 and HEK293 cells) [1,2]	No nucleolar localization, no ribosome association(in Cos7, HeLa and HEK293 cells) [1,2]	-	-	-	-	[1] Angelini et al (2007) Hum Mol Genet 16, 1720-7; [2] Da Costa et al (2003) Blood 101, 5039-45	pat1rps1900033	f	None	yes	na	-	de novo, in patient	Willig et al (1999) Blood 94, 4294-306	DNA	SEQ	-	1
+/+	05	c.382C>T	-	p.Gln128X	-	RPS19_00010	-	Nonsense mutation	transition	-	-	-	-	-	-	-	-	-	pat1rps1900010	m	None	na	na	-	de novo, in patient	Proust et al (2003) Hematol J 4, 132-6	DNA	SEQ	-	1
+/+	05	c.384_385delAA	-	p.Asp130SerfsX23	-	RPS19_00058	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat4rps1900058	m	None	na	yes	-	de novo, in patient	Campagnoli et al (2004) Haematologica 89, 480-9	DNA	SEQ	-	1

101 - 200
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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)