IthaID: 3854



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 66/67 (-AAAG) HGVS Name: HBB:c.199_202delAAAG
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCCTAAGGTGAAGGCTCATGGCAAG [AAAG/-] TGCTCGGTGCCTTTAGTGATGGCCT (Strand: -)

Also known as:

Comments: Found in a 5-year-old male in compound heterozygosity with the IVS I-5 (G>C) [IthaID:107]. The patient presented with a prolonged blood transfusion history from the age of 8 months old. The frameshift mutation predicted to produce a truncated β-globin chain that shown absence affinity for heme molecules, using bioinformatics tools

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70923
Size: 4 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: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Chauhan W, Afzal M, Zaka-Ur-Rab Z, Noorani MS, A Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, India., Appl Clin Genet, 14(0), 77-85, 2021 PubMed
Created on 2021-09-23 08:58:55, Last reviewed on 2021-09-23 10:19:17 (Show full history)

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