IthaID: 3014



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 2 CAT>C-T HGVS Name:  HBB:c.8delA
Hb Name: N/A Protein Info: β 1 (-T); modified C-terminal sequence: (1)Gly-Ile-(3)COOH

Protein sequence:
MVLX

Comments: Found as a heterozygote associated with a beta-thal mutation. Observed in a child with clinical symptoms of thalassemia at an age of 6 months, with fever and pallor. The child only survived for 11 months with two transfusions occurring within survival period. This deletion results in a stop codon after third position of the growing amino-acid chain, purportedly leading to β0 condition from that allele.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70602
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Indian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Nagar R, Sinha S, Raman R, Genotype-phenotype correlation and report of novel mutations in β-globin gene in thalassemia patients., Blood Cells Mol. Dis. , 55(1), 10-4, 2015 PubMed
Created on 2016-08-24 12:11:41, Last reviewed on 2016-08-24 12:13:20 (Show full history)

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