IthaID: 3342



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 62 GCT>GTT [Ala>Val] HGVS Name: HBB:c.188C>T
Hb Name: Hb Hachioji Protein Info: N/A

Context nucleotide sequence:
TGTTATGGGCAACCCTAAGGTGAAGG [A/C/T] TCATGGCAAGAAAGTGCTCGGTGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKVHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: Found as a heterozygote in a male patient with chronic hemolytic anaemia, as well as in his father, who was asymptomatic and healthy.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70912
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
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: Japanese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Mella F, Yamashiro Y, Adhiyanto C, Tanaka T, Nitta T, Amao Y, Kimoto M, A Coincidental Discovery of a New Stable Variant (Hb Hachioji or HBB: c.187C>T) in a Patient with Chronic Hemolytic Anemia of Unexplained Origin., Hemoglobin , 42(1), 1-6, 2018 PubMed
Created on 2018-08-07 18:48:00, Last reviewed on 2018-08-07 18:57:23 (Show full history)

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