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

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The variants below are all in the RPS26 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 RPS26, 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 RPS26 full legend here.

13 public entries
entries per page

Path.

Exon

DNA change

RNA change

Protein

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms

Patient ID

Gender

Malformations

Growth Retardation

Steroid Response

Complications

Variant Origin

Reference

Template

Technique

Remarks

# Reported


+/+	01	c.1A>G	-	p.Met1Val	-	RPS26_00002	-	Missense mutation	transition	pat1rps2600002	m	None	na	yes	-	familial	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+	01	c.1A>G	-	p.Met1Val	-	RPS26_00002	-	Missense mutation	transition	pat2rps2600002	f	None	na	no	-	familial	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+	01	c.1A>G	-	p.Met1Val	-	RPS26_00002	-	Missense mutation	transition	pat3rps2600002	m	None	na	no	-	de novo, in patient	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+	01	c.1A>G	-	p.Met1Val	-	RPS26_00002	-	Missense mutation	transition	pat4rps2600002	m	None	na	yes	-	?(unknown)	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+	01	c.1A>G	-	p.Met1Val	-	RPS26_00002	-	Missense mutation	transition	pat5rps2600002	f	None	na	yes	-	familial	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+	01	c.1A>G	-	p.Met1Val	-	RPS26_00002	-	Missense mutation	transition	pat6rps2600002	m	Duplicated pelvocalicon on right kidney	na	no	-	?(unknown)	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+	01	c.1A>T	-	p.Met1Leu	-	RPS26_00001	-	Missense mutation	transversion	pat1rps2600001	m	Cleft lip and palate	na	yes	-	de novo, in patient	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+	01	c.1T>G	-	p.Met1Arg	-	RPS26_00003	-	Missense mutation	transversion	pat1rps2600003	m	Not Available	na	na	-	?(unknown)	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+	01	c.3+1G>A	-	p.0?	-	RPS26_00007	Intron 1	Donor splice site defect	transition	pat1rps2600007	m	None	na	no	-	de novo, in patient	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+	01	c.3+1G>C	-	p.0?	-	RPS26_00006	Intron 1	Donor splice site defect	transversion	pat1rps2600006	m	Not Available	na	na	-	?(unknown)	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+	02	c.3+1G>T	-	p.0?	-	RPS26_00008	Intron 1	Donor splice site defect	transversion	pat1rps2600008	f	Not Available	na	na	-	de novo, in patient	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+	02	c.31 32insG	-	p.Ala11GlyfsX15	-	RPS26_00005	-	Insertion	slippage	pat1rps2600005	f	None	na	no	-	sporadic?(patients non tested)	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1
+/+?	02	c.97G>A	-	p.Asp33Asn	-	RPS26_00004	-	Missense mutation	transition	pat1rps2600004	m	Inguinal hernia, missing vas deferens (unilateral), slightly abnormal epidymis, pronounced boney prominence of a cervical spinous process	na	no	-	de novo, in patient	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228	DNA	SEQ	-	1

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Legend: [ RPS26 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. 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. RPS26 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 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 S26 (RPS26)