IthaID: 256



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 127/128 -AGG [Glu-Ala>Pro] HGVS Name: HBB:c.383_385delAGG
Hb Name: Hb Gunma Protein Info: β 127(H5) - 128(H6) Gln-Ala->0 AND inserted Pro

Context nucleotide sequence:
GGCAAAGAATTCACCCCACCAGTGC [-/AGG] CTGCCTATCAGAAAGTGGTGGCTGG (Strand: -)

Also known as:

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]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71957
Size: 3 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Japanese
Molecular mechanism: Altered α1β1 interface
Inheritance: Dominant
DNA Sequence Determined: No

Sequence Viewer

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Frequencies

Publications / Origin

  1. Hattori Y, Yamane A, Yamashiro Y, Matsuno Y, Yamamoto K, Yamamoto K, Ohba Y, Miyaji T, Characterization of beta-thalassemia mutations among the Japanese., Hemoglobin, 13(7), 657-70, 1989 PubMed
  2. 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
  3. Ohba Y, Hattori Y, Harano T, Harano K, Fukumaki Y, Ideguchi H, beta-thalassemia mutations in Japanese and Koreans., Hemoglobin, 21(2), 191-200, 1997 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-30 09:27:38 (Show full history)

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