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

About this overview [Show]

The variants below are all in the RPS17 database, matching your query. 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 RPS17 full legend here.

3 entries
entries per page

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms


01	c.1A>G	-	p.Met1Val	NlaIII(-)	-	RPS17_00003	-	elimination of the natural start site for protein biosynthesis	transition
01	c.2T>G	-	p.Met1Arg	NlaIII(-)	-	RPS17_00001	-	elimination of the natural start site for protein biosynthesis	transversion
03	c.200_201delGA	-	p.Gly68TyrfsX19	-	-	RPS17_00002	-	Deletion	-

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Legend: [ RPS17 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. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency of polymorphism. RPS17 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 S17 (RPS17)