View unique variants - Diamond-Blackfan Anemia - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the RPS19 database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
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.

130 entries
entries per page

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


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
04	c.341delA (Reported 2 times)	-	p.Lys115ArgfsX9	-	RPS19_00056	-	Deletion	slippage	-	-	-	-	-	-	-	-	-
04	c.344delA (Reported 2 times)	-	p.Lys115ArgfsX9	-	RPS19_00128	-	Deletion	slippage	-	-	-	-	-	-	-	-	-
04	c.344_345insAA	-	p.Asp116ArgfsX9	-	RPS19_00057	-	Insertion	slippage	-	-	-	-	-	-	-	-	-
04	c.356_357insG	-	p.Gly120ArgfsX34	-	RPS19_00110	-	Donor splice site defect	slippage	-	-	-	-	-	-	-	-	-
04	c.356+1G>A (Reported 4 times)	-	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
04	c.356+1G>T	-	p.0?	-	RPS19_00085	Intron 4	Donor splice site defect	transversion	-	-	-	-	-	-	-	-	-
04	c.356+1_356+2delGTins12	-	p.0?	-	RPS19_00108	Intron 4	Donor splice site defect	-	-	-	-	-	-	-	-	-	-
04	c.356+2T>A	-	p.Ser59AlafsX4	-	RPS19_00073	Intron 4	Donor splice site defect; exon 4 deletion	transversion	-	-	-	-	-	-	-	-	-
05	deletion of 295bp spanning exon 5 (nt 357-411 of the cDNA) (Reported 2 times)	-	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
05	c.357-1G>A	-	p.Gly120Trpfs	-	RPS19_00075	Intron 4	Acceptor splice site defect; exon 5 deletion	transition	-	-	-	-	-	-	-	-	-
05	c.357-1G>T (Reported 2 times)	-	p.Gly120Trpfs	-	RPS19_00074	Intron 4	Acceptor splice site defect; exon 5 deletion	transversion	-	-	-	-	-	-	-	-	-
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
05	c.372_373insA	-	p.Pro125ThrfsX29	-	RPS19_00129	-	Insertion	slippage	-	-	-	-	-	-	-	-	-
05	c.376C>T (Reported 2 times)	-	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
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
05	c.382C>T	-	p.Gln128X	-	RPS19_00010	-	Nonsense mutation	transition	-	-	-	-	-	-	-	-	-
05	c.384_385delAA (Reported 8 times)	-	p.Asp130SerfsX23	-	RPS19_00058	-	Deletion	slippage	-	-	-	-	-	-	-	-	-
05	c.386_387ins8	-	p.Leu131Lysfs	-	RPS19_00059	-	Insertion	-	-	-	-	-	-	-	-	-	-
05	c.390_391delTC	-	p.Leu131GlyfsX22	-	RPS19_00060	-	Deletion	-	-	-	-	-	-	-	-	-	-
05	c.392T>C	-	p.Leu131Pro	-	RPS19_00035	-	Missense mutation	transition	-	-	-	-	-	-	-	-	-
05	c.392T>G	-	p.Leu131Arg	-	RPS19_00034	-	Missense mutation	transversion	-	-	-	-	-	-	-	-	-
05	c.401_402insT	-	p.Ala135ArgfsX19	-	RPS19_00127	-	Insertion	slippage	-	-	-	-	-	-	-	-	-
05	c.403G>A	-	p.Ala135Thr	-	RPS19_00036	-	Missense mutation	CpG	-	-	-	-	-	-	-	-	-
05	c.411+1G>A (Reported 2 times)	-	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
06	c.412-13_417del	-	p.0?	-	RPS19_00113	Intron 5/Exon 6	Deletion	-	-	-	-	-	-	-	-	-	-
06	c.412delG	-	p.Val138Trpfs	-	RPS19_00061	-	Deletion	slippage	-	-	-	-	-	-	-	-	-
06	c.417delA	-	p.Ala140Leufs	-	RPS19_00062	-	Deletion	slippage	-	-	-	-	-	-	-	-	-
06	c.418delG	-	p.Ala140Leufs	-	RPS19_00093	-	Deletion	-	-	-	-	-	-	-	-	-	-
06	c.435_*3del	-	p.His145Glnfs	-	RPS19_00063	-	Deletion	-	-	-	-	-	-	-	-	-	-

101 - 130
[<-] 1 2 [->]

* 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.
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

Diamond-Blackfan Anemia

ribosomal protein S19 (RPS19)