IthaID: 55


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 4/5/6: CD 4 (ACT>ACA), CD 5 (CCT>TCT), CD 6 (GAG>TAG) HGVS Name: HBB:c.[15T>A;16C>T;19G>T]
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70609 or 70610 or 70613
Size: 1 bp or 1 bp or 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation), Missense codons (Protein Structure)
Ethnic Origin: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Agarwal S, Wei L, Hattori Y, Agarwal SS, Codon 4 ACT-->ACA, codon 5 CCT-->TCT, and codon 6 GAG-->TAG mutations in cis position: a form of thalassemia trait., Am. J. Hematol. , 56(3), 187-8, 1997
  2. Saxena R, Moi L, Demurtas M, Rosatelli MC, Cao A, Verma IC, A beta-thalassaemia allele with 3 base substitution in codons 4/5 & 6 (ACT CCT GAG-> ACA TCT TAG) detected by denaturing gradient gel electrophoresis & sequencing., Indian J. Med. Res. , 111(0), 24-7, 2000
Created on 2010-06-16 16:13:14, Last reviewed on 2017-05-29 11:48:18 (Show full history)

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