IthaID: 461



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 12 GCC>GAC [Ala>Asp] HGVS Name: HBA2:c.38C>A
Hb Name: Hb J-Paris-I Protein Info: α2 12(A10) Ala>Asp

Context nucleotide sequence:
CCTGCCGACAAGACCAACGTCAAGG [A/C] CGCCTGGGGTAAGGTCGGCGCGCAC (Strand: +)

Protein sequence:
MVLSPADKTNVKDAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb J-Aljezur

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37617
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: Iranian, Portuguese, Punjabi, Spanish, Yugoslavian
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
296Hb J-Paris-Iα2VARIANT IIDual Kit Program350.55Heterozygote. Elutes together with HbF. [PDF]

Sequence Viewer

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Publications / Origin

  1. Trincao C, De Melo JM, Lorkin PA, Lehmann H, Haemoglobin J Paris in the south of Portugal (Algarve)., Acta Haematol. , 39(5), 291-8, 1968 PubMed
  2. Niazi GA, Efremov GD, Nikolov N, Hunter E, Huisman TH, Hemoglobin-Strumica or alpha 2 112(G19) His replaced by Arg beta 2. (With an addendum: hemoglobin-J-Paris-I, alpha 2 12(A10) Ala replaced by Asp beta 2, in the same population)., Biochim. Biophys. Acta , 412(1), 181-6, 1975 PubMed
  3. Dash S, Huisman TH, First observation of hemoglobin J Paris I [alpha-2-12(A10)alanine-aspartic acid beta-2] in the Indian subcontinent., Acta Haematol. , 79(2), 117, 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. 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 16:13:15, Last reviewed on 2014-06-05 10:13:14 (Show full history)

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