IthaID: 449


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 6 GAC>GCC [Asp>Ala] HGVS Name: HBA1:c.20A>C | HBA2:c.20A>C
Hb Name: Hb Sawara Protein Info: α2 or α1 6(A4) Asp>Ala

Context nucleotide sequence:
CCCACCATGGTGCTGTCTCCTGCCG [A/C/G/T] CAAGACCAACGTCAAGGCCGCCTGG (Strand: +)

Protein sequence:
MVLSPAAKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33795 or 37599
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

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

Publications / Origin

  1. Sumida I, Ota Y, Imamura T, Yanase T, Hemoglobin Sawara: alpha 6(A4) aspartic acid leads to alanine., Biochim. Biophys. Acta , 322(1), 23-6, 1973
  2. Sumida I, Studies of abnormal hemoglobins in western Japan. Frequency of visible hemoglobin variants, and chemical characterization of hemoglobin Sawara (alpha 26Alabeta2) and hemoglobin Mugino (Hb L Ferrara; alpha247Glybeta2)., Jinrui Idengaku Zasshi , 19(4), 343-63, 1975
  3. Sasaki J, Imamura T, Sumida I, Yanase T, Ohya M, Increased oxygen affinity for hemoglobin Sawara: alphaA4(6) aspartic acid replaced by alanine., Biochim. Biophys. Acta , 495(1), 183-6, 1977
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 15:58:29 (Show full history)

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