IthaID: 854

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 16 GGC>GAC HGVS Name: HBB:c.50G>A
Hb Name: Hb J-Baltimore Protein Info: β 16(A13) Gly>Asp

Context nucleotide sequence:

Protein sequence:

Also known as: Hb J-Georgia , Hb J-Ireland , Hb J-Trinidad , Hb N-New Haven

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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: 70644
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African | Dutch | English | French | Spanish | Swedish
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
85Hb J-BaltimoreβD-10Dual Kit Program42.91.52Clinically normal.[PDF]
86Hb J-BaltimoreβVARIANTβ-thal Short Program40.81.8Clinically normal.[PDF]
87Hb J-BaltimoreβVARIANT IIβ-thal Short Program44.81.83Clinically normal.[PDF]
88Hb J-BaltimoreβVARIANT IIDual Kit Program43.91.567Clinically normal.[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Landin B, Jeppsson JO, Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis., Hemoglobin, 17(4), 303-18, 1993 PubMed
  2. Arribalzaga K, Ricard MP, Carreño DL, Sanchez J, Gonzalez A, Ropero P, Villegas A, Hb J-Baltimore [beta 16(A13)Gly-->Asp] associated with beta(+)-thalassemia in a Spanish family., Hemoglobin , 20(1), 79-84, 1996 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2017-04-10 13:07:27 (Show full history)

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