IthaID: 245



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 123 (-A) >156aa HGVS Name: HBB:c.370delA
Hb Name: Hb Makabe Protein Info: β 123 (-A); modified C-terminal sequence: (123)Pro-His-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys- Trp-Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro- Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(156)Tyr-COOH

Context nucleotide sequence:
GGCCCATCACTTTGGCAAAGAATTC [-/A] CCCCACCAGTGCAGGCTGCCTATCA (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71944
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:Thalassaemia dominant
Dominant
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Japanese
Inheritance: Dominant
DNA Sequence Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Fucharoen S, Fucharoen G, Fukumaki Y, Nakayama Y, Hattori Y, Yamamoto K, Ohba Y, Three-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta gunma) with a thalassemia-like phenotype., Blood, 76(9), 1894-6, 1990 PubMed
  2. Fucharoen S, Kobayashi Y, Fucharoen G, Ohba Y, Miyazono K, Fukumaki Y, Takaku F, A single nucleotide deletion in codon 123 of the beta-globin gene causes an inclusion body beta-thalassaemia trait: a novel elongated globin chain beta Makabe., British journal of haematology, 75(3), 393-9, 1990 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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