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:
CTGTCCACTCCTGATGCTGTTATGG [A/G] CAACCCTAAGGTGAAGGCTCATGGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMDNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

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

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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

Location

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

HPLC

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

Frequencies

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
  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
  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
Created on 2010-06-16 16:13:16, Last reviewed on 2017-04-11 16:24:20 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.