IthaID: 2509



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 16 AAG>GAG [Lys>Glu] HGVS Name: HBA1:c.49A>G
Hb Name: HbI Protein Info: α1 16(A14) Lys>Glu

Context nucleotide sequence:
GACCAACGTCAAGGCCGCCTGGGGT [A/C] AGGTCGGCGCGCACGCTGGCGAGTA (Strand: +)

Also known as: Hb I-Burlington , Hb I-Philadelphia , Hb I-Skamania , Hb I-Texas

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37628
Size: 1 bp
Located at: α1
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: Australian, Black, Caucasian, Indian, Japanese
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
581HbIα1D-10Dual Kit Program10.41.36heterozygote[PDF]
584HbIα1VARIANT IIDual Kit Program22.51.467heterozygote[PDF]
598HbIα1VARIANT IIDual Kit Program27.91.491Heterozygote.[PDF]
582HbIα1VARIANTβ-thal Short Program14.81.39heterozygote[PDF]
583HbIα1VARIANT IIβ-thal Short Program14.91.4heterozygote[PDF]
597HbIα1VARIANT IIβ-thal Short Program18.11.43Heterozygote. [PDF]

Sequence Viewer

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Publications / Origin

  1. Beale D, Lehmann H, Abnormal haemoglobins and the genetic code., Nature , 207(994), 259-61, 1965 PubMed
  2. Esan GJ, Morgan FJ, O'Donnell JV, Ford S, Bank A, Diminished synthesis of an alpha chain mutant, hemoglobin I (alpha-16 lys leads to glu)., J. Clin. Invest. , 49(12), 2218-21, 1970 PubMed
  3. Fleming PJ, Arnold BJ, Thompson EO, Hughes WG, Morgan L, Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families., Pathology , 10(4), 317-27, 1978 PubMed
  4. Saito S, Fujita S, Ohta Y, Kobayashi Y, Hemoglobin I (alpha 16(A14) Lys replaced by Glu) and hemoglobin J Iran (beta 77(EF1) His replaced by Asp) discovered in Japanese., Hemoglobin , 6(5), 537-41, 1982 PubMed
  5. Liebhaber SA, Rappaport EF, Cash FE, Ballas SK, Schwartz E, Surrey S, Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome., Science , 226(4681), 1449-51, 1984 PubMed
  6. 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
Created on 2014-06-05 12:34:28, Last reviewed on 2014-06-05 12:35:33 (Show full history)

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