IthaID: 3571


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 50 ACT>GCT [Thr>Ala] HGVS Name: HBB:c.151A>G
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CTTTGAGTCCTTTGGGGATCTGTCC [A>G] CTCCTGATGCTGTTATGGGCAACCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSAPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Reported in a heterozygous state in one individual with 3.5% HbA2 (MCV < 80 fL and MCH < 27 pg) during a carrier screening programme.

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: 70875
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

Frequencies

Publications / Origin

  1. Noor FA, Sultana N, Bhuyan GS, Islam MT, Hossain M, Sarker SK, Islam K, Khan WA, Rahman M, Qadri SK, Shekhar HU, Qadri F, Qadri SS, Mannoor K, Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population., Orphanet J Rare Dis, 15(1), 15, 2020
Created on 2020-02-12 11:42:24, Last reviewed on (Show full history)

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