IthaID: 600


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 71 GCG>GAG [Ala>Glu] HGVS Name: HBA1:c.215C>A | HBA2:c.215C>A
Hb Name: Hb J-Habana Protein Info: α2 or α1 71(E20) Ala>Glu

Context nucleotide sequence:
GCCGACGCGCTGACCAACGCCGTGG [A/C/G/T] GCACGTGGACGACATGCCCAACGCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVEHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34107 or 37911
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Cuban, Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Colombo B, Vidal H, Kamuzora H, Lehmann H, A new haemoglobin J-Habana-alpha71(E20) alanine leads to glutamic acid., Biochim. Biophys. Acta , 351(1), 1-6, 1974
  2. Ohba Y, Yoshinaka H, Hattori Y, Matsuoka M, Miyaji T, Hemoglobin J Habana found in a cord blood of a Japanese., Hemoglobin , 7(4), 327-9, 1983
  3. Hidaka K, Iuchi I, Shimasaki S, Mizuta W, Takatsuka M, Mori T, Tohdoh A, Matsuo M, The survey of abnormal hemoglobins in the Kobe district: Hb G-Coushatta [beta 22(B4)Glu----Ala], Hb Ankara (beta 10(A7)Ala----Asp], Hb Handa [alpha 90(FG2)Lys----Met], and Hb J-Habana [alpha 71(E20)Ala----Glu]., Hemoglobin, 10(1), 65-72, 1986
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-10 08:58:01 (Show full history)

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