IthaID: 988

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 56 GGC>GAC HGVS Name: HBB:c.170G>A
Hb Name: Hb J-Bangkok Protein Info: β 56(D7) Gly>Asp

Context nucleotide sequence:

Protein sequence:

Also known as: Hb J-Korat , Hb J-Manado , Hb J-Meinung

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: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70894
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African | Chinese | Indonesian | Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No


Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
281Hb J-BangkokβD-10Dual Kit Program39.81.68heterozygote[PDF]
282Hb J-BangkokβVARIANTβ-thal Short Program38.71.9heterozygote[PDF]
356Hb J-BangkokβVARIANT IIDual Kit Program26.41.7Clinically normal. Rare but found worldwide. [PDF]
355Hb J-BangkokβVARIANT IIβ-thal Short Program34.52.02Clinically normal. Rare but found worldwide. [PDF]
284Hb J-BangkokβVARIANT IIDual Kit Program32.31.66heterozygote[PDF]
283Hb J-BangkokβVARIANT IIβ-thal Short Program38.71.92heterozygote[PDF]

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.


Publications / Origin

  1. Clegg JB, Naughton MA, Weatherball DJ, Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok)., Journal of molecular biology, 19(1), 91-108, 1966 PubMed
  2. Pootrakul S, Wasi P, Na-Nakorn S, Haemoglobin J-Bangkok: a clinical, haematological and genetical study., Br. J. Haematol. , 13(3), 303-9, 1967 PubMed
  3. Chang JG, Shih MC, Liu SC, Chen CM, Chan WL, Lee TP, Peng CT, Hb G-Honolulu [alpha30(B11)Glu-->Gln (alpha2)], Hb J-Meinung [beta56(D7)Gly-->Asp], and beta-thalassemia [codons 41/42 (-TCTT)] in a Taiwanese family., Hemoglobin , 26(3), 325-8, 2002 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2017-04-11 16:24:20 (Show full history)

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