IthaID: 3444



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 147 TAA>TCA [Stop>Ser] HGVS Name: HBB:c.443A>C
Hb Name: Hb Kanagawa Protein Info: N/A

Context nucleotide sequence:
CTAATGCCCTGGCCCACAAGTATCACT [A>C] AGCTCGCTTTCTTGCTGTCCAATT (Strand: -)

Comments: Reported as a de novo mutation in a two-month-old patient, initially diagnosed with congenital dyserythropoietic anaemia. This mutation results in a stop-codon substitution to a serine residue and an increase of 21 amino-acids in the beta-globin chain. Leads to a dominant beta-thalassemia state according to this case report.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72017
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Dominant
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Sugiyama M, Hamanoue S, Nagai JI, Tsurusaki Y, Kurosawa K, Tanaka M, Tanaka Y, Goto H, Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β-globin gene mutation causing dominantly inherited β-thalassemia., Pediatr Blood Cancer, 66(9), e27871, 2019 PubMed
Created on 2019-09-03 12:49:58, Last reviewed on (Show full history)

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