IthaID: 3562



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: -198 A>G HGVS Name: HBB:c.-248A>G
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGTATGGGGCCAAGAGAT [A>G] TATCTTAGAGGGAGGGCTG (Strand: -)

Also known as:

Comments: Mutation is found upstream to the Cap site of the β gene. Co-inherited with a frameshift mutation at codon 2 [HBB:c.9delT] in one individual (MCV: 51.9 fL, MCH: 15.5 pg, Hb: 10 g/dL, HbA2: 5.7%).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70347
Size: 1 bp
Located at: β
Specific Location: Promoter

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Azerbaijani
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Bayramov B, Aliyeva G, Asadov C, Mammadova T, Karimova N, Eynullazadeh K, Gafarova S, Akbarov S, Farhadova S, Safarzadeh Z, Abbasov M, A Novel Frameshift Mutation at Codon 2 (-T) (: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan., Hemoglobin, 43(0), 280-282, 2019 PubMed
Created on 2020-01-31 09:06:46, Last reviewed on (Show full history)

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