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

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The variants below are all in the RPS24 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 RPS24, 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 RPS24 full legend here.

12 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


+/+	01	c.1A>G	-	p.Met1Val	0/200	RPS24_00003	-	Missense mutation	transition	Reduces RPS24 mRNA levels	Reduced mRNA levels compared to controls in primary fibroblasts.	Reduced protein levels compared to controls in primary fibroblasts.	-	-	-	S phase defect	-	Badhai et al (2009) Biochim Biophys Acta 1792(10), 1036-42	pat1rps2400003	f	Thenar muscle	yes	na	-	sporadic?(parents not tested)	Badhai et al (2009) Biochim Biophys Acta 1792(10), 1036-42	DNA	SEQ, RT-QPCR, Western, Northern	-	1
+/+	01	c.1A>G	-	p.Met1Val	0/200	RPS24_00003	-	Missense mutation	transition	Reduces RPS24 mRNA levels	Reduced mRNA levels compared to controls in primary fibroblasts.	Reduced protein levels compared to controls in primary fibroblasts.	-	-	-	S phase defect	-	Badhai et al (2009) Biochim Biophys Acta 1792(10), 1036-42	pat2rps2400003	m	Extreme micropenis (9x4 mm), posterior hypospadias, right scrotal gonad, left high scrotal gonad	no	yes	-	? (unkonwn)	Hoefele et al (2010) Pediatr Nephrol., Epub ahead of print	DNA	SEQ	-	1
+/+	02	c.[4-14_4-1del; 4_6delAACinsTACGGATAG]	r.4_69del	p.0	-	RPS24_00002	Intron1/Exon2	Splice-site mutation; exon 2 deletion	-	Reduces RPS24 mRNA levels	Reduced mRNA levels compared to controls in lymphoblastoid cell lines [1].	Reduced protein expression in lymphoblastoid cell lines obtained from patients [1].	-	18S rRNA processing defect as indicated by increase in 30S rRNA (lower 41S/30S ratio) and lower levels of 40S subunit [2].	-	-	-	[1] Gazda et al (2006) Am J Hum Genet. 79, 1110-8; [2] Choesmel et al (2008) Hum Mol Genet. [Epub ahead of print]	pat1rps2400002	m	Heart anomalies	no	na	-	sporadic?(parents not tested)	Gazda et al (2006) Am J Hum Genet. 79, 1110-8	DNA	SEQ	-	1
+/+	02	c.[4-14_4-1del; 4_6delAACinsTACGGATAG]	r.4_69del	p.0	-	RPS24_00002	Intron1/Exon2	Splice-site mutation; exon 2 deletion	-	Reduces RPS24 mRNA levels	Reduced mRNA levels compared to controls in lymphoblastoid cell lines [1].	Reduced protein expression in lymphoblastoid cell lines obtained from patients [1].	-	18S rRNA processing defect as indicated by increase in 30S rRNA (lower 41S/30S ratio) and lower levels of 40S subunit [2].	-	-	-	[1] Gazda et al (2006) Am J Hum Genet. 79, 1110-8; [2] Choesmel et al (2008) Hum Mol Genet. [Epub ahead of print]	pat2rps2400002	na	Not available	na	yes	-	familial	Gazda et al (2006) Am J Hum Genet. 79, 1110-8	DNA	SEQ	-	1
+/+	02	c.46C>T	r.46C>U	p.Arg16X	-	RPS24_00001	-	Nonsense mutation	CpG	Unclassified	-	Reduced protein expression in lymphoblastoid cell lines obtained from patients [1].	-	18S rRNA processing defect as indicated by increase in 30S rRNA (lower 41S/30S ratio) and lower levels of 40S subunit [2].	-	-	-	[1] Gazda et al (2006) Am J Hum Genet. 79, 1110-8; [2] Choesmel et al (2008) Hum Mol Genet. [Epub ahead of print]	pat1rps2400001	na	Not available	na	na	-	sporadic?(parents not tested)	Gazda et al (2006) Am J Hum Genet. 79, 1110-8	DNA	SEQ	-	1
+/+	02	c.64_66delCAA	-	p.Gln22del	-	RPS24_00005	-	Deletion	slippage	-	-	-	-	-	-	-	-	-	pat1rps2400005	na	None	na	na	-	de novo	Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print]	DNA	SEQ	-	1
+/+	04	c.316C>T	r.316C>U	p.Gln106X	-	RPS24_00004	-	Nonsense mutation	transition	Reduces RPS24 mRNA levels	Reduced mRNA levels compared to controls in lymphoblastoid cell lines [1].	Reduced protein expression in lymphoblastoid cell lines obtained from patients [1].	-	18S rRNA processing defect as indicated by increase in 30S rRNA (lower 41S/30S ratio) and lower levels of 40S subunit [2].	-	-	-	[1] Gazda et al (2006) Am J Hum Genet. 79, 1110-8; [2] Choesmel et al (2008) Hum Mol Genet. [Epub ahead of print]	pat1rps2400004	m	Not available	na	yes	-	sporadic?(parents not tested)	Gazda et al (2006) Am J Hum Genet. 79, 1110-8	DNA	SEQ	-	1
+/+	04	c.316C>T	r.316C>U	p.Gln106X	-	RPS24_00004	-	Nonsense mutation	transition	Reduces RPS24 mRNA levels	Reduced mRNA levels compared to controls in lymphoblastoid cell lines [1].	Reduced protein expression in lymphoblastoid cell lines obtained from patients [1].	-	18S rRNA processing defect as indicated by increase in 30S rRNA (lower 41S/30S ratio) and lower levels of 40S subunit [2].	-	-	-	[1] Gazda et al (2006) Am J Hum Genet. 79, 1110-8; [2] Choesmel et al (2008) Hum Mol Genet. [Epub ahead of print]	pat2rps2400004	m	Not available	na	yes	-	familial	Gazda et al (2006) Am J Hum Genet. 79, 1110-8	DNA	SEQ	-	1
+/+	04	c.316C>T	r.316C>U	p.Gln106X	-	RPS24_00004	-	Nonsense mutation	transition	Reduces RPS24 mRNA levels	Reduced mRNA levels compared to controls in lymphoblastoid cell lines [1].	Reduced protein expression in lymphoblastoid cell lines obtained from patients [1].	-	18S rRNA processing defect as indicated by increase in 30S rRNA (lower 41S/30S ratio) and lower levels of 40S subunit [2].	-	-	-	[1] Gazda et al (2006) Am J Hum Genet. 79, 1110-8; [2] Choesmel et al (2008) Hum Mol Genet. [Epub ahead of print]	pat3rps2400004	m	Not available	na	yes	-	familial	Gazda et al (2006) Am J Hum Genet. 79, 1110-8	DNA	SEQ	-	1
+/+	04	c.316C>T	r.316C>U	p.Gln106X	-	RPS24_00004	-	Nonsense mutation	transition	Reduces RPS24 mRNA levels	Reduced mRNA levels compared to controls in lymphoblastoid cell lines [1].	Reduced protein expression in lymphoblastoid cell lines obtained from patients [1].	-	18S rRNA processing defect as indicated by increase in 30S rRNA (lower 41S/30S ratio) and lower levels of 40S subunit [2].	-	-	-	[1] Gazda et al (2006) Am J Hum Genet. 79, 1110-8; [2] Choesmel et al (2008) Hum Mol Genet. [Epub ahead of print]	pat4rps2400004	f	None	no	na	-	familial	Gazda et al (2006) Am J Hum Genet. 79, 1110-8	DNA	SEQ	-	1
+/+	04	c.316C>T	r.316C>U	p.Gln106X	-	RPS24_00004	-	Nonsense mutation	transition	Reduces RPS24 mRNA levels	Reduced mRNA levels compared to controls in lymphoblastoid cell lines [1].	Reduced protein expression in lymphoblastoid cell lines obtained from patients [1].	-	18S rRNA processing defect as indicated by increase in 30S rRNA (lower 41S/30S ratio) and lower levels of 40S subunit [2].	-	-	-	[1] Gazda et al (2006) Am J Hum Genet. 79, 1110-8; [2] Choesmel et al (2008) Hum Mol Genet. [Epub ahead of print]	pat5rps2400004	m	None	no	na	-	familial	Gazda et al (2006) Am J Hum Genet. 79, 1110-8	DNA	SEQ	-	1
+/+	04	c.390+1G>A	-	p.0?	-	RPS24_00006	Intron 4	Donor splice site defect	transition	-	-	-	-	-	-	-	-	-	pat1rps2400006	m	Not available	na	na	-	sporadic?(parents not tested)	Hanna Gazda Children's Hospital Boston	DNA	SEQ	-	1

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Legend: [ RPS24 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. RPS24 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 mutations on protein 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: Remarks Functional_Reference: 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 S24 (RPS24)