IthaID: 696



Names and Sequences

Functionality: Globin gene causative mutation
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:
CCTCTTCTCTGCACAGCTCCTAAGC [C/T] ACTGCCTGCTGGTGACCCTGGCCGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSYCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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.

Location

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

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian
Inheritance: Recessive
DNA Sequence Determined: Yes
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
165Hb Lombardα2D-10Dual Kit Program0.52.55Heterozygous. 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]
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]

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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