IthaID: 988



Names and Sequences

Functionality: Globin gene causative mutation
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

External Links

Location

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

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

Other details

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

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]
284Hb J-BangkokβVARIANT IIDual Kit Program32.31.66heterozygote[PDF]
356Hb J-BangkokβVARIANT IIDual Kit Program26.41.7Clinically normal. Rare but found worldwide. [PDF]
282Hb J-BangkokβVARIANTβ-thal Short Program38.71.9heterozygote[PDF]
283Hb J-BangkokβVARIANT IIβ-thal Short Program38.71.92heterozygote[PDF]
355Hb J-BangkokβVARIANT IIβ-thal Short Program34.52.02Clinically normal. Rare but found worldwide. [PDF]

Sequence Viewer

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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 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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