IthaID: 544


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 47 GAC>GGC [Asp>Gly] HGVS Name: HBA1:c.143A>G | HBA2:c.143A>G
Hb Name: Hb Beilinson Protein Info: α2 or α1 47(CE5) Asp>Gly

Context nucleotide sequence:
ACCAAGACCTACTTCCCGCACTTCG [A/C/G] CCTGAGCCACGGCTCTGCCCAGGTT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFGLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Kokura , Hb L-Gaslini , Hb Mugino , Hb Tagawa-II , Hb Umi , Hb Yukuhashi-II

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34035 or 37839
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: Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. DEVRIES A, JOSHUA H, LEHMANN H, HILL RL, FELLOWS RE, THE FIRST OBSERVATION OF AN ABNORMAL HAEMOGLOBIN IN A JEWISH FAMILY: HAEMOGLOBIN BEILINSON., Br. J. Haematol. , 9(0), 484-6, 1963
  2. Ohba Y, Hattori Y, Matsuoka M, Miyaji T, Fuyuno K, HB Kokura [alpha 47 (CE 5) Asp leads to Gly]: a slightly unstable variant., Hemoglobin , 6(1), 69-74, 1982
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-27 13:11:03 (Show full history)

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