Variants - Diamond-Blackfan Anemia - Leiden Open Variation Database

About this overview [Show]
This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Variant data
Allele	Paternal (confirmed)
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	04
DNA change	c.316C>T (View in UCSC Genome Browser, Ensembl)
RNA change	r.316C>U
Protein	p.Gln106X
Frequency	-
DB-ID	RPS24_00004
Location	-
Remarks	Nonsense mutation
Molecula Mechanisms	transition
Functional_Classific	Reduces RPS24 mRNA levels
mRNA_Expression	Reduced mRNA levels compared to controls in lymphoblastoid cell lines [1].
Protein_Expression	Reduced protein expression in lymphoblastoid cell lines obtained from patients [1].
Protein_Localization	-
rRNA_Metabolism	18S rRNA processing defect as indicated by increase in 30S rRNA (lower 41S/30S ratio) and lower levels of 40S subunit [2].
Protein_Synthesis	-
Cell_Growth	-
Functional_Remarks	-
Functional_Reference	[1] Gazda et al (2006) Am J Hum Genet. 79, 1110-8; [2] Choesmel et al (2008) Hum Mol Genet. [Epub ahead of print]

1 entry in RPS24

Path.

Allele

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

+/+

Paternal (confirmed)

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].

Diamond-Blackfan Anemia