IthaID: 696

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 103 CAC>TAC [His>Tyr] HGVS Name: HBA2:c.310C>T
Hb Name: Hb Lombard Protein Info: α2 103(G10) His>Tyr

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Mutation occurs at the site of an α1β1 contact. It disrupts binding to residues on the β chain, which disrupts α1β1 dimerization with subsequent accumulation of unstable free globin subunits. It also destabilizes free α chains by disrupting binding to the chaperone AHSP. It does not appear to have any haematological or clinical abnormalities.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34344
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: Yes


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
165Hb Lombardα2D-10Dual Kit Program0.52.55Heterozygous. Elutes as a shoulder in the descending part of the HbA peak. [PDF]
166Hb Lombardα2VARIANTβ-thal Short Program872.45Heterozygous. Elutes with HbA.[PDF]
167Hb Lombardα2VARIANT IIβ-thal Short Program88.82.55Heterozygous. Elutes as a shoulder in the descending part of the HbA peak. [PDF]
169Hb Lombardα2VARIANT IIDual Kit Program87.91.809Heterozygous. Elutes as a shoulder in the descending part of the HbA peak. [PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Hoyer JD, McCormick DJ, Snow K, Kwon JH, Booth D, Duarte M, Grayson G, Kubik KS, Holmes MW, Fairbanks VF, Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Antonio [A113(GH2)Leu-->Arg (A2)]., Hemoglobin , 26(2), 175-9, 2002 PubMed
  2. Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-06-20 13:07:40 (Show full history)

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