IthaID: 989

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 56-60 (-12bp) HGVS Name: HBB:c.170_181del
Hb Name: Hb Tochigi Protein Info: β 56(D7) - 59(E3) Gly-Asn-Pro-Lys->0

Context nucleotide sequence:

Also known as:

Comments: Found in three members of a Japanese family. Reported in literature as HBB:c.169_180delGGCAACCCTAAG, which does not follow the HGVS Sequence Variant Nomeclature recommendations.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70894
Size: 12 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Yamada K, Shinkai N, Nakazawa S, Yamada Z, Saito K, Hemoglobin Tochigi disease, a new unstable hemoglobin hemolytic anemia found in a Japanese family., Nippon Ketsueki Gakkai zasshi : journal of Japan Haematological Society, 34(4), 484-97, 1971
Created on 2010-06-16 16:13:16, Last reviewed on 2019-11-11 12:56:56 (Show full history)

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