IthaID: 3722



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 86 GCC>GC- HGVS Name: HBB:c.261delC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGACAACCTCAAGGGCACCTTTGC [T/-] ACACTGAGTGAGCTGCACTGTGAC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFAQX

Also known as:

Comments: Found in found in a 27-year old pregnant woman with reduced MCV 65 fL, MCH 21.4 pg and HbA 86.5% and increased HbA2 5.4%. Amniocentesis showed that the fetus was compound heterozygous for the novel deletion and the CD 41/42 (‐TTCT) [IthaID: 147], inherited from the father. The woman keeps the fetus and now child shows severe β‐thalassaemia phenotype and needs transfusion therapy every month. The T deletion, causing a frameshift that introduces a premature stop codon two amino acids further down the new reading frame.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70985
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Zhang H, Li C, Li J, Hou S, Chen D, Yan H, Chen S, Liu S, Yin Z, Yang X, Tan J, Huang X, Zhang L, Fang J, Zhang C, Li W, Guo J, Lei D, Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China., J Clin Lab Anal, 33(4), e22845, 2019 PubMed
Created on 2021-01-30 15:01:31, Last reviewed on 2021-02-01 12:33:18 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.