IthaID: 1246

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 129 GCC>GAC [Ala>Asp]	HGVS Name:	HBB:c.389C>A
Hb Name:	Hb J-Taichung	Protein Info:	β 129(H7) Ala>Asp

Context nucleotide sequence:
GAATTCACCCCACCAGTGCAGGCTG [C>A] CTATCAGAAAGTGGTGGCTGGTGTG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQADYQKVVAGVANALAHKYH

Also known as: Hb K-Cameroon

Comments: Hb J-Taichung was detected by haemoglobin electrophoresis and DNA sequencing, and reported as a non-pathological, stable β-chain variant that does not produce anaemia. It is characterized by replacement of the alanyl residue at position β129 in the H-helix (Η7) by a negatively charged aspartyl residue. Also reported in public databases as Hb K-Cameroon (HBB:p.[Ala130Asp or Ala130Glu]) based on an incomplete protein analysis.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	HbVar
dbSNP	dbSNP
OMIM	LOVD
ClinVar

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	71963
Size:	1 bp
Located at:	β
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Chinese, Taiwanese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Blackwell RQ, Yang HJ, Wang CC, Hemoglobin J Taichung:beta-129 ALA--ASP., Biochimica et biophysica acta, 194(1), 1-5, 1969 PubMed
Lin TH, Er TK, Liu SC, Lin IC, Cheng HL, Peng CT, Shih HC, Chang JG, Molecular characterisation and diagnosis of Hb J-Taichung (129[H7]Ala-->Asp) in a Taiwanese family subject., Br. J. Biomed. Sci., 67(1), 31-4, 2010 PubMed

Created on 2010-06-16 16:13:17, Last reviewed on 2023-04-28 14:05:34 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2019-06-20 09:40:45	The IthaGenes Curation Team	Reviewed. Comment, Reference and Ethnic Origin added.
4	2023-04-28 14:05:34	The IthaGenes Curation Team	Reviewed. Synonym name and Links added. Comment updated.

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