IthaID: 560



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 54 CAG>CGG [Gln>Arg] HGVS Name: HBA2:c.164A>G
Hb Name: Hb Shimonoseki Protein Info: α2 54(E3) Gln>Arg

Context nucleotide sequence:
TTCGACCTGAGCCACGGCTCTGCCC [A/G] GGTTAAGGGCCACGGCAAGAAGGTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSARVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Hikoshima

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: 34056
Size: 1 bp
Located at: 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, Greek
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

HPLC

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ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
161Hb Shimonosekiα2D-10Dual Kit Program14.74.17Heterozygous. Elutes as HbS. [PDF]
162Hb Shimonosekiα2VARIANTβ-thal Short Program14.54.21Heterozygous. Elutes as HbS. [PDF]

Sequence Viewer

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Publications / Origin

  1. HANADA M, RUCKNAGEL DL, The abnormality of the primary structure of hemoglobin Shimonoseki., Biochem. Biophys. Res. Commun. , 11(0), 229-38, 1963 PubMed
  2. MIYAJI T, IUCHI I, TAKEDA I, SHIBATA S, HEMOGLOBIN SHIMOSEKI (ALPHA-2-53ARG BETA-2-A), A SLOW-MOVING HEMOGLOBIN FOUND IN A JAPANESE FAMILY, WITH SPECIAL REFERENCE TO ITS CHEMISTRY., Nippon Ketsueki Gakkai Zasshi , 26(0), 531-7, 1963 PubMed
  3. HANADA M, RUCKNAGEL DL, THE CHARACTERIZATION OF HEMOGLOBIN SHIMONOSEKI., Blood , 24(0), 624-35, 1964 PubMed
  4. Imai K, Morimoto H, Kotani M, Shibata S, Miyaji T, Studies on the function of abnormal hemoglobins. II. Oxygen equilibrium of abnormal hemoglobins: Shimonoseki, Ube II, Hikari, Gifu, and Agenogi., Biochimica et biophysica acta, 200(2), 197-202, 1970 PubMed
  5. Theodoridou S, Delaki E, Skatharoudi E, Karakasidou O, Vyzantiadis TA, Theodoridis T, Chalkia P, First Report of a Coincidental Discovery of Hb Shimonoseki [α54(E3)Gln→Arg, HBA2: c.164A > G (or HBA1)] in a Greek Family., Hemoglobin, 42(4), 281-282, 2018 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 11:01:09 (Show full history)

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