IthaID: 727



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 120 GCG>GAG [Ala>Glu] HGVS Name: HBA2:c.362C>A
Hb Name: Hb J-Meerut Protein Info: α2 120(H3) Ala>Glu

Context nucleotide sequence:
CACCTCCCCGCCGAGTTCACCCCTG [A/C] GGTGCACGCCTCCCTGGACAAGTTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPEVHASLDKFLASVSTVLTSKYR

Also known as: Hb J-Birmingham

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34396
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: 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: Indian, Japanese, Turkish
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
369Hb J-Meerutα2D-10Dual Kit Program9.11.42heterozygote[PDF]
372Hb J-Meerutα2VARIANT IIDual Kit Program9.51.53heterozygote[PDF]
370Hb J-Meerutα2VARIANTβ-thal Short Program17.61.86heterozygote[PDF]
371Hb J-Meerutα2VARIANT IIβ-thal Short Program7.41.65heterozygote[PDF]

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Blackwell RQ, Wong HB, Wang CL, Weng MI, Liu CS, Hemoglobin J Meerut: alpha120 Ala leads to Glu., Biochim. Biophys. Acta , 351(1), 7-12, 1974 PubMed
  2. Harano T, Harano K, Imai K, Yunoki H, Yagi H, Nagashima K, Kuroume T, Hb J-Meerut [alpha 120(H3)Ala----Glu] found in a Japanese family., Hemoglobin , 13(2), 169-75, 1989 PubMed
  3. 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
  4. Yalçin A, Avcu F, Beyan C, Gürgey A, Ural AU, A case of HB J-Meerut (or Hb J-Birmingham) [alpha 120(H3)Ala-->Glu]., Hemoglobin , 18(6), 433-5, 1994 PubMed
  5. Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-06-05 12:24:19 (Show full history)

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