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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	OMIM
LOVD

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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

Publications / Origin

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

Created on 2010-06-16 16:13:16, Last reviewed on 2020-05-04 13:14:56 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2018-04-17 09:41:15	The IthaGenes Curation Team	Reviewed. Location corrected
4	2020-04-29 22:21:42	The IthaGenes Curation Team	Reviewed. Chromosome and locus location corrected. HGVS name and comment added.
5	2020-04-30 16:36:42	The IthaGenes Curation Team	Reviewed. Type of mutation corrected.
6	2020-05-04 13:14:56	The IthaGenes Curation Team	Reviewed. Specific location added.

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