IthaID: 479



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 20 CAC>CAA [His>Gln] HGVS Name: HBA2:c.63C>A
Hb Name: Hb Le Lamentin Protein Info: α2 20(B1) His>Gln

Context nucleotide sequence:
CCGCCTGGGGTAAGGTCGGCGCGCA [A/C] GCTGGCGAGTATGGTGCGGAGGCCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAQAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33838
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-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: Missense codons (Protein Structure)
Ethnic Origin: English, French West Indies, Japanese, Spanish
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
297Hb Le Lamentinα2D-10Dual Kit Program24.81.36heterozygote[PDF]
365Hb Le Lamentinα2D-10Dual Kit Program28.81.38heterozygote[PDF]
300Hb Le Lamentinα2VARIANT IIDual Kit Program25.51.41heterozygote[PDF]
368Hb Le Lamentinα2VARIANT IIDual Kit Program29.11.47heterozygote[PDF]
298Hb Le Lamentinα2VARIANTβ-thal Short Program25.41.51heterozygote[PDF]
366Hb Le Lamentinα2VARIANTβ-thal Short Program331.49heterozygote[PDF]
299Hb Le Lamentinα2VARIANT IIβ-thal Short Program25.61.49heterozygote[PDF]
367Hb Le Lamentinα2VARIANT IIβ-thal Short Program5.61.66heterozygote[PDF]

Sequence Viewer

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Publications / Origin

  1. Sellaye M, Blouquit Y, Galacteros F, Arous N, Monplaisir N, Rhoda MD, Braconnier F, Rosa J, A new silent hemoglobin variant in a black family from French West Indies, hemoglobin Le Lamentin alpha 20 His replaced by Gln., FEBS Lett. , 145(1), 128-30, 1982 PubMed
  2. Harano T, Harano K, Shibata S, Ueda S, Imai K, Tsuneshige A, Uchida E, Horiuchi K, Hb Le Lamentin [alpha 20 (B 1) His----Gln] in Japan: structure, function and biosynthesis., Hemoglobin , 7(2), 181-4, 1983 PubMed
  3. Malcorra-Azpiazu JJ, Balda-Aguirre MI, Diaz-Chico JC, Kutlar F, Kutlar A, Wilson JB, Hu H, Huisman TH, Hb Le Lamentin or alpha 2 20(B1)His----GLN beta 2 found in a Spanish family., Hemoglobin , 12(2), 201-5, 1988 PubMed
  4. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
  5. Reynolds TM, McMillan F, Smith A, Hutchinson A, Green B, Haemoglobin Le Lamentin (alpha 20 (B1) His-->Gln) in a British family: identification by electrospray mass spectrometry., J. Clin. Pathol. , 51(6), 467-70, 1998 PubMed
  6. Wiener K, McFarlane X, Green BN, Increasing recognition of haemoglobin Le Lamentin., J. Clin. Pathol. , 54(12), 970, 2001 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-13 09:14:15 (Show full history)

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