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

About this overview [Show]

The variants below are all in the RPL5 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 RPL5 full legend here.

39 entries
entries per page

Exon

DNA change

RNA change

Protein

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms


01	c.1A>G	-	p.Met1?	-	RPL5_00037	-	Missense mutation	transition
01	c.2T>G (Reported 2 times)	-	p.Met1Arg	-	RPL5_00030	-	Missense mutation	transition
01	c.3G>C	-	p.Met1?	-	RPL5_00001	-	Missense mutation	transversion
02	c.39_40insT	-	p.Lys14X	-	RPL5_00007	-	Insertion	slippage
02	c.46_47insA	-	p.Tyr16X	-	RPL5_00016	-	Insertion	slippage
02	c.48C>A	-	p.Tyr16X	-	RPL5_00032	-	Nonsense mutation	transversion
02	c.48C>G	-	p.Tyr16X	-	RPL5_00012	-	Nonsense mutation	transversion
02	c.67C>T (Reported 2 times)	-	p.Arg23X	-	RPL5_00013	-	Nonsense mutation	CpG
02	c.73+2T>G	-	p.0?	-	RPL5_00024	Intron 2	Donor splice site defect	transversion
03	c.74-1G>A (Reported 2 times)	-	p.0?	-	RPL5_00026	Intron 2	Acceptor splice site defect	transition
03	c.91delT	-	p.Tyr31MetfsX7	-	RPL5_00036	-	Deletion	-
03	c.134_138delACACA	-	p.Asn45ThrfsX66	-	RPL5_00003	-	Deletion	slippage
03	c.145dupT	-	p.Tyr49Leufs X64	-	RPL5_00027	-	Insertion	slippage
03	c.156_159delAGTT	-	p.Arg54X	-	RPL5_00017	-	Deletion	-
03	c.169_172delAACA (Reported 5 times)	-	p.Asn57GlufsX12	-	RPL5_00004	-	Deletion	slippage
03	c.172_173insA	-	p.Arg58LysfsX55	-	RPL5_00009	-	Insertion	slippage
03	c.173 delG	-	p.Arg58LysfsX12	-	RPL5_00019	-	Deletion	-
03	c.175_176delGA (Reported 4 times)	-	p.Asp59TyrfsX53	-	RPL5_00018	-	Deletion	slippage
03	c.183_184delTT	-	p.Ile61MetfsX51	-	RPL5_00005	-	Deletion	slippage
03	c.189+1G>A	-	p.0?	-	RPL5_00010	Intron 3	Donor splice site defect	transition
03	c.189+1G>T	-	p.0?	-	RPL5_00025	Intron 3	Donor splice site defect	transversion
04	c.191_204insCTCTTACTATAGAT	-	p.Ile64LeufsX10	-	RPL5_00035	-	Insertion	-
04	c.208G>T	-	p.Glu70X	-	RPL5_00033	-	Nonsense mutation	transversion
04	c.228C>A	-	p.Cys76X	-	RPL5_00014	-	Nonsense mutation	transversion
04	c.235_236insT (Reported 4 times)	-	p.Tyr79LeufsX34	-	RPL5_00020	-	Insertion	slippage
04	c.283delT	-	p.Tyr95MetfsX31	-	RPL5_00038	-	Deletion	slippage
04	c.324+5G>T	-	p.0?	-	RPL5_00011	Intron 4	Donor splice site defect	transversion
05	c.336delG	-	p.Arg112SerfsX14	-	RPL5_00006	-	Deletion	slippage
05	c.347_348insTGGA (Reported 3 times)	-	p.Lys117GlyfsX5	-	RPL5_00021	-	Insertion	slippage
05	c.390C>G	-	p.Tyr130X	-	RPL5_00039	Exon	Nonsense mutation	transversion
05	c.418G>A (Reported 2 times)	-	p.Gly140Ser	-	RPL5_00015	-	Missense mutation	transition
05	c.454delA	-	p.Arg152GlufsX12	-	RPL5_00031	-	Deletion	-
05	c.[498_502delTGTGG;497_498ins40] (Reported 3 times)	-	p.0?	-	RPL5_00022	-	Insertion/Deletion	-
06	c.535C>T (Reported 2 times)	-	p.Arg179X	-	RPL5_00034	-	Nonsense mutation	CpG
06	c.565delG	-	p.Glu189AsnfsX23	-	RPL5_00028	-	Deletion	slippage
06	c.573_574insG	-	p.Ala192GlyfsX25	-	RPL5_00023	-	Insertion	slippage
06	c.[678C>A; 680T>G]	-	p.[Tyr226X; Ile227Arg]	-	RPL5_00002	-	Nonsense/Missense mutation	transversion
06	c.692_693insT	-	p.Thr232AsnfsX50	-	RPL5_00008	-	Insertion	slippage
08	c.854C>T (Reported 2 times)	-	p.Ala285Val	-	RPL5_00029	-	Missense mutation	transition

1 - 39

Legend: [ RPL5 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. 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. RPL5 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

Diamond-Blackfan Anemia

ribosomal protein L5 (RPL5)