IthaID: 1124

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 95/96 (+15 bp) HGVS Name: HBB:c.274_288dup
Hb Name: Hb Koriyama Protein Info: Leu-His-Cys-Asp-Lys- inserted between codons 95(FG2) and 96(FG3) of β

Also known as:

Comments: Found in a Japanese girl with very severe, chronic hemolytic anemia. The unstable hemoglobin caused by a 15-bp duplication involving 5 tandemly repeated amino acids.

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: 70998
Size: 15 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Kawata R, Ohba Y, Yamamoto K, Miyaji T, Makita R, Ohga K, Watanabe S, Miwa S, Hyperunstable hemoglobin Koriyama anti-Hb Gun Hill insertion of five residues in the beta chain., Hemoglobin, 12(4), 311-21, 1988 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2020-05-04 13:14:56 (Show full history)

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